A obesidade abdominal, também conhecida como obesidade central e obesidade troncular, é a condição humana de uma concentração excessiva de gordura visceral ao redor do estômago e do abdômen, a ponto de provavelmente prejudicar a saúde do portador. A obesidade abdominal tem sido fortemente associada a doenças cardiovasculares, mal de Alzheimer e outras doenças metabólicas e vasculares.
Introdução
O que você precisa saber de cara
Doença rara caracterizada por acúmulo de lipídios no cérebro, levando a perda visual progressiva, paraparesia espástica e macrocefalia. Pode apresentar fadiga, alterações na pele e no bulbo raquidiano, além de hipertensão pulmonar.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 154 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 368 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
15 genes identificados com associação a esta condição.
Secreted protein that acts as a key regulator of lysosomal function and as a growth factor involved in inflammation, wound healing and cell proliferation (PubMed:12526812, PubMed:18378771, PubMed:28073925, PubMed:28453791, PubMed:28541286). Regulates protein trafficking to lysosomes, and also the activity of lysosomal enzymes (PubMed:28453791, PubMed:28541286). Also facilitates the acidification of lysosomes, causing degradation of mature CTSD by CTSB (PubMed:28073925). In addition, functions as
SecretedLysosome
Frontotemporal dementia 2
A form of dementia characterized by pathologic finding of frontotemporal lobar degeneration, presenile dementia with behavioral changes, deterioration of cognitive capacities and loss of memory. Gestural apraxia, parkinsonism, visual loss, and visual hallucinations are present in 25 to 40% of patients.
ATPase which acts as a lysosomal polyamine exporter with high affinity for spermine (PubMed:31996848). Also stimulates cellular uptake of polyamines and protects against polyamine toxicity (PubMed:31996848). Plays a role in intracellular cation homeostasis and the maintenance of neuronal integrity (PubMed:22186024). Contributes to cellular zinc homeostasis (PubMed:24603074). Confers cellular protection against Mn(2+) and Zn(2+) toxicity and mitochondrial stress (PubMed:26134396). Required for pr
Lysosome membraneLate endosome membraneEndosome, multivesicular body membraneCytoplasmic vesicle, autophagosome membrane
Kufor-Rakeb syndrome
A rare form of autosomal recessive juvenile or early-onset, levodopa-responsive parkinsonism. In addition to typical parkinsonian signs, clinical manifestations of Kufor-Rakeb syndrome include behavioral problems, facial tremor, pyramidal tract dysfunction, supranuclear gaze palsy, and dementia.
Hydrolyzes the non-reducing end N-acetyl-D-hexosamine and/or sulfated N-acetyl-D-hexosamine of glycoconjugates, such as the oligosaccharide moieties from proteins and neutral glycolipids, or from certain mucopolysaccharides (PubMed:11707436, PubMed:8123671, PubMed:8672428, PubMed:9694901). The isozyme S is as active as the isozyme A on the anionic bis-sulfated glycans, the chondroitin-6-sulfate trisaccharide (C6S-3), and the dermatan sulfate pentasaccharide, and the sulfated glycosphingolipid SM
Lysosome
GM2-gangliosidosis 1
An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. It is characterized by GM2 gangliosides accumulation in the absence of HEXA activity, leading to neurodegeneration and, in the infantile form, death in early childhood. It exists in several forms: infantile (most common and most severe), juvenile and adult (late-onset).
Endoplasmic reticulum membraneEndoplasmic reticulum
Ceroid lipofuscinosis, neuronal, 6
An autosomal recessive form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 6 comprise mixed combinations of granular, curvilinear, and fingerprint profiles.
Glucosylceramidase that catalyzes, within the lysosomal compartment, the hydrolysis of glucosylceramides/GlcCers (such as beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine) into free ceramides (such as N-acylsphing-4-enine) and glucose (PubMed:15916907, PubMed:24211208, PubMed:32144204, PubMed:39395789, PubMed:9201993). Plays a central role in the degradation of complex lipids and the turnover of cellular membranes (PubMed:27378698). Through the production of ceramides, participates in the PKC-activ
Lysosome membrane
Gaucher disease
An autosomal recessive lysosomal storage disease due to deficient activity of lysosomal beta-glucocerebrosidase, and characterized by accumulation of glucosylceramide in the reticulo-endothelial system. GD is a multisystem disease historically divided into three main subtypes on the basis of the presence of neurologic involvement, age at onset and progression rate: type 1 is the non-neuropathic form, type 2 is the acute neuropathic form with early onset and rapid neurologic deterioration, type 3 is the chronic neuropathic form with slow progression of neurologic features. GD shows a marked phenotypic diversity ranging from adult asymptomatic forms, at the mild end, to perinatal lethal forms at the severe end of the disease spectrum. Formal diagnosis of Gaucher disease is based on the measurement of glucocerebrosidase levels in circulating leukocytes and molecular genetic analysis.
Acts as a lysosomal receptor for glucosylceramidase (GBA1) targeting (Microbial infection) Acts as a receptor for enterovirus 71
Lysosome membrane
Epilepsy, progressive myoclonic 4, with or without renal failure
A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM4 is an autosomal recessive form associated with renal failure in some cases. Cognitive function is preserved.
Hydrolyzes the galactose ester bonds of glycolipids such as galactosylceramide and galactosylsphingosine (PubMed:8281145, PubMed:8399327). Enzyme with very low activity responsible for the lysosomal catabolism of galactosylceramide, a major lipid in myelin, kidney and epithelial cells of small intestine and colon (PubMed:8281145, PubMed:8399327)
Lysosome
Krabbe disease
An autosomal recessive disorder characterized by insufficient catabolism of several galactolipids that are important for normal myelin production. Four clinical forms are recognized. The infantile form accounts for 90% of cases. It manifests before six months of age with irritability, spasticity, arrest of motor and mental development, and bouts of temperature elevation without infection. This is followed by myoclonic jerks of arms and legs, oposthotonus, hypertonic fits, and mental regression, which progresses to a severe decerebrate condition with no voluntary movements and death from respiratory infections or cerebral hyperpyrexia before 2 years of age. Cases with later onset present with unexplained blindness, weakness and sensorimotor peripheral neuropathy, mental deterioration and death.
Could play a role in cell proliferation during neuronal differentiation and in protection against cell death
Endoplasmic reticulum membraneEndoplasmic reticulum-Golgi intermediate compartment membraneEndoplasmic reticulum
Ceroid lipofuscinosis, neuronal, 8
A form of neuronal ceroid lipofuscinosis with onset in childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 8 comprise mixed combinations of granular, curvilinear, and fingerprint profiles.
Acts as a general chaperone in regulated exocytosis (By similarity). Acts as a co-chaperone for the SNARE protein SNAP-25 (By similarity). Involved in the calcium-mediated control of a late stage of exocytosis (By similarity). May have an important role in presynaptic function. May be involved in calcium-dependent neurotransmitter release at nerve endings (By similarity)
Cytoplasm, cytosolMembraneCytoplasmic vesicle, secretory vesicle, chromaffin granule membraneMelanosomeCell membrane
Ceroid lipofuscinosis, neuronal, 4B (Kufs type), autosomal dominant
An adult-onset neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. CLN4B has no visual involvement and is characterized by seizures and other neurologic symptoms.
Lysosomal serine protease with tripeptidyl-peptidase I activity (PubMed:11054422, PubMed:19038966, PubMed:19038967). May act as a non-specific lysosomal peptidase which generates tripeptides from the breakdown products produced by lysosomal proteinases (PubMed:11054422, PubMed:19038966, PubMed:19038967). Requires substrates with an unsubstituted N-terminus (PubMed:19038966)
LysosomeMelanosome
Ceroid lipofuscinosis, neuronal, 2
A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment pattern seen most often in CLN2 consists of curvilinear profiles.
Cytochrome P450 monooxygenase that catalyzes regio- and stereospecific hydroxylation of cholesterol and its derivatives. Hydroxylates (with R stereochemistry) the terminal methyl group of cholesterol side-chain in a three step reaction to yield at first a C26 alcohol, then a C26 aldehyde and finally a C26 acid (PubMed:12077124, PubMed:21411718, PubMed:28190002, PubMed:9660774). Regulates cholesterol homeostasis by catalyzing the conversion of excess cholesterol to bile acids via both the 'neutra
Mitochondrion inner membrane
Cerebrotendinous xanthomatosis
Rare sterol storage disorder characterized clinically by progressive neurologic dysfunction, premature atherosclerosis, and cataracts.
Thiol protease which is believed to participate in intracellular degradation and turnover of proteins. Has also been implicated in tumor invasion and metastasis
Lysosome
Ceroid lipofuscinosis, neuronal, 13 (Kufs type)
A form of neuronal ceroid lipofuscinosis characterized by adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death. Some patients develop seizures. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material. CLN13 inheritance is autosomal recessive.
Acid protease active in intracellular protein breakdown. Plays a role in APP processing following cleavage and activation by ADAM30 which leads to APP degradation (PubMed:27333034). Involved in the pathogenesis of several diseases such as breast cancer and possibly Alzheimer disease
LysosomeMelanosomeSecreted, extracellular space
Ceroid lipofuscinosis, neuronal, 10
A form of neuronal ceroid lipofuscinosis with onset at birth or early childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy.
Hydrolyzes the non-reducing end N-acetyl-D-hexosamine and/or sulfated N-acetyl-D-hexosamine of glycoconjugates, such as the oligosaccharide moieties from proteins and neutral glycolipids, or from certain mucopolysaccharides (PubMed:11707436, PubMed:8123671, PubMed:8672428, PubMed:9694901). The isozyme B does not hydrolyze each of these substrates, however hydrolyzes efficiently neutral oligosaccharide (PubMed:11707436). Only the isozyme A is responsible for the degradation of GM2 gangliosides in
LysosomeCytoplasmic vesicle, secretory vesicle, Cortical granule
GM2-gangliosidosis 2
An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. Clinically indistinguishable from GM2-gangliosidosis type 1, presenting startle reactions, early blindness, progressive motor and mental deterioration, macrocephaly and cherry-red spots on the macula.
Mediates microtubule-dependent, anterograde transport connecting the Golgi network, endosomes, autophagosomes, lysosomes and plasma membrane, and participates in several cellular processes such as regulation of lysosomal pH, lysosome protein degradation, receptor-mediated endocytosis, autophagy, transport of proteins and lipids from the TGN, apoptosis and synaptic transmission (PubMed:10924275, PubMed:15471887, PubMed:18317235, PubMed:18817525, PubMed:20850431, PubMed:22261744). Facilitates the
Lysosome membraneLate endosomeLysosomeGolgi apparatusGolgi apparatus membraneGolgi apparatus, Golgi stackGolgi apparatus, trans-Golgi networkCell membraneRecycling endosomeMembrane raftMembrane, caveolaEarly endosome membraneSynapse, synaptosomeLate endosome membraneCytoplasmic vesicle, autophagosome
Ceroid lipofuscinosis, neuronal, 3
A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a fingerprint profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with neuronal ceroid lipofuscinosis type 3.
Medicamentos e terapias
Mecanismo: Bile acid receptor FXR agonist
Mecanismo: Ceramide glucosyltransferase inhibitor
Mecanismo: Ceramide glucosyltransferase inhibitor
Mecanismo: Coagulation factor IX exogenous protein
Mecanismo: Inosine-5'-monophosphate dehydrogenase (IMPDH) inhibitor
Mecanismo: HMG-CoA reductase inhibitor
Variantes genéticas (ClinVar)
1,634 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
25 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Demência relacionada com lipidose cerebral
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Publicações mais relevantes
Brain-Directed AAV Gene Therapy Rescues a Mouse Model of the CLN5 Form of Neuronal Ceroid Lipofuscinosis Disease and Normalizes a Blood Plasma Biomarker of Neurodegeneration.
CLN5 disease, caused by mutations in the CLN5 gene, is a form of neuronal ceroid lipofuscinoses (Batten disease). Patients suffer progressive motor dysfunction, vision loss, seizures, and dementia, leading to premature death. Here, we report a preclinical study of AAV9-mediated gene therapy in a Cln5-/- mouse model. Single-dose AAV9 carrying human CLN5 driven by the CAG or human synapsin 1 promoter (hSYN) was administered via intracerebroventricular injection into neonatal and juvenile Cln5-/- mice. Treatment efficacy was evaluated by assessment of neurodegeneration, neuroinflammation, locomotor function, and survival. AAV9 expressing CLN5 driven by the hSYN promoter significantly alleviated neurodegeneration, improved biochemical and glycosphingolipid profiles, neuropathological and locomotor function, and extended lifespan of the Cln5-/- mice. However, gene transfer employing the CAG promoter demonstrated limited therapeutic efficacy. Furthermore, delayed intervention in juveniles provided superior therapeutic response compared with early neonatal intervention and normalized lifespan. Finally, blood plasma neurofilament light that is significantly elevated in the Cln5-/- mice is restored to normal wildtype levels following treatment. These results indicate that brain-directed adeno-associated virus (AAV) gene therapy could be a promising treatment strategy for CLN5 disease and efficacy might be monitored using a noninvasive blood plasma biomarker.
Adult-onset Niemann-Pick disease type C presenting as progressive chorea mimicking Huntington's disease.
The etiologies of progressive generalized chorea in adults are typically acquired or genetic causes, such as Huntington's disease (HD). We present the case of a 43-year-old woman who experienced progressive generalized chorea and cognitive decline over the course of 8 years. Abnormal eye movements, such as the "round-the-houses" and "zig-zag" signs, were observed. Brain MRI showed caudate atrophy, with a phenotype resembling HD. A rare genetic etiology of Niemann-Pick disease type C (NPC) was ultimately identified as the final diagnosis for this index patient. In this movement disorder round, we describe our approach to this clinical presentation and highlight the features following appropriate treatment.
Gut-Brain Interactions in Neuronal Ceroid Lipofuscinoses: A Systematic Review Beyond the Brain in Paediatric Dementias.
Neuronal ceroid lipofuscinoses (NCLs) are paediatric neurodegenerative disorders that primarily affect the central nervous system (CNS). The high prevalence of gastrointestinal (GI) symptoms has prompted researchers and clinicians to move beyond an exclusively "brain-centric" perspective. At the molecular level, mutations in CLN genes lead to lysosomal dysfunction and impaired autophagy, resulting in intracellular accumulation of storage material that disrupts both central and enteric neuronal homeostasis. To systematically examine current clinical and preclinical knowledge on gut involvement in NCLs, with a focus on recent findings related to the enteric nervous system and gut microbiota. We conducted a systematic review following the PRISMA guidelines using PubMed as the sole database. Both clinical (human) and preclinical (animal) studies were included. A total of 18 studies met the inclusion criteria, focusing on gastrointestinal dysfunction, nervous system involvement, and gut microbiota. We found that the nature of GI symptoms was multifactorial in NCLs, involving not only the CNS but also the autonomic and enteric nervous systems, which were affected early by lysosomal deposits and enteric neuron degeneration. Of note, preclinical studies showed that gene therapy could improve not only CNS manifestations but also GI ones, which may have beneficial implications for patient care. While the role of the ENS seems to be clearer, that of gut microbiota needs to be further clarified. Current evidence from preclinical models highlighted alterations in the composition of the microbiota and suggested a possible influence on the progression and modulation of neurological symptoms. However, these results need to be confirmed by further studies demonstrating the causality of this relationship. GI involvement is a key feature of NCLs, with early impact on the enteric nervous system and possible links to gut microbiota. Although preclinical findings-particularly on gene therapy-are encouraging due to their dual impact on both CNS and GI manifestations, the causal role of the gut microbiota remains to be fully elucidated. In this context, the development of sensitive and specific outcome measures to assess GI symptoms in clinical trials is crucial for evaluating the efficacy of future therapeutic interventions.
Speech, Language and Non-verbal Communication in CLN2 and CLN3 Batten Disease.
CLN2 and CLN3 diseases, the most common types of Batten disease (also known as neuronal ceroid lipofuscinosis), are childhood dementias associated with progressive loss of speech, language and feeding skills. Here we delineate speech, language, non-verbal communication and feeding phenotypes in 33 individuals (19 females) with a median age of 9.5 years (range 3-28 years); 16 had CLN2 and 17 CLN3 disease; 8/15 (53%) participants with CLN2 and 8/17 (47%) participants with CLN3 disease had speech and language impairments prior to genetic diagnosis. At the time of study all participants, bar one, had language impairments. The remaining participant with typical language was tested at age 3 years, following pre-symptomatic enzyme replacement therapy (ERT) from age 9 months. CLN2 and CLN3 disease had different profiles. For CLN2 disease, all affected individuals showed language impairment with dysarthria; older individuals with classical disease progressively became non-verbal. For CLN3 disease, the presentation was more heterogeneous. Speech impairment was evident early in the disease course, with dysarthria (13/15, 87%), often manifesting as neurogenic stuttering (5/15, 33%). Participants with CLN2 disease had comparable expressive and receptive language skills (p > 0.99), yet participants with CLN3 disease had stronger expressive language than receptive language skills (p = 0.004). Speech, cognitive and language impairment and adaptive behaviour showed progressive decline in both diseases. Individuals with pre-symptomatic ERT or atypical CLN2 disease were less impaired. Challenging behaviours were common in CLN3 (11/17, 65%), but less frequent in CLN2 (4/16, 25%) disease. Individuals with Batten disease require tailored speech therapy incorporating communication partner training utilising environment adaptations and informal communication behaviours.
Expanding the Neurological Phenotype of Anderson-Fabry Disease: Proof of Concept for an Extrapyramidal Neurodegenerative Pattern and Comparison with Monogenic Vascular Parkinsonism.
Anderson-Fabry disease (AFD) is a genetic sphingolipidosis involving virtually the entire body. Among its manifestation, the involvement of the central and peripheral nervous system is frequent. In recent decades, it has become evident that, besides cerebrovascular damage, a pure neuronal phenotype of AFD exists in the central nervous system, which is supported by clinical, pathological, and neuroimaging data. This neurodegenerative phenotype is often clinically characterized by an extrapyramidal component similar to the one seen in prodromal Parkinson's disease (PD). We analyzed the biological, clinical pathological, and neuroimaging data supporting this phenotype recently proposed in the literature. Moreover, we compared the neurodegenerative PD phenotype of AFD with a classical monogenic vascular disease responsible for vascular parkinsonism and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). A substantial difference in the clinical and neuroimaging features of neurodegenerative and vascular parkinsonism phenotypes emerged, with AFD being potentially responsible for both forms of the extrapyramidal involvement, and CADASIL mainly associated with the vascular subtype. The available studies share some limitations regarding both patients' information and neurological and genetic investigations. Further studies are needed to clarify the potential association between AFD and extrapyramidal manifestations.
Publicações recentes
Gut-Brain Interactions in Neuronal Ceroid Lipofuscinoses: A Systematic Review Beyond the Brain in Paediatric Dementias.
Adult-onset Niemann-Pick disease type C presenting as progressive chorea mimicking Huntington's disease.
Expanding the Neurological Phenotype of Anderson-Fabry Disease: Proof of Concept for an Extrapyramidal Neurodegenerative Pattern and Comparison with Monogenic Vascular Parkinsonism.
Familial Alzheimer's disease associated with heterozygous NPC1 mutation.
[Argentinean Consensus on the Diagnosis and Treatment of Niemann- Pick Disease Type C].
📚 EuropePMCmostrando 92
Brain-Directed AAV Gene Therapy Rescues a Mouse Model of the CLN5 Form of Neuronal Ceroid Lipofuscinosis Disease and Normalizes a Blood Plasma Biomarker of Neurodegeneration.
Human gene therapyGut-Brain Interactions in Neuronal Ceroid Lipofuscinoses: A Systematic Review Beyond the Brain in Paediatric Dementias.
International journal of molecular sciencesAdult-onset Niemann-Pick disease type C presenting as progressive chorea mimicking Huntington's disease.
Parkinsonism & related disordersSpeech, Language and Non-verbal Communication in CLN2 and CLN3 Batten Disease.
Journal of inherited metabolic diseaseIncreased SNAI2 expression and defective collagen adhesion in cells with pediatric dementia, juvenile ceroid lipofuscinosis.
Biochemical and biophysical research communicationsExpanding the Neurological Phenotype of Anderson-Fabry Disease: Proof of Concept for an Extrapyramidal Neurodegenerative Pattern and Comparison with Monogenic Vascular Parkinsonism.
CellsThe annotation of GBA1 has been concealed by its protein-coding pseudogene GBAP1.
Science advancesRapidly progressive cognitive impairment resulting in heavy psychosocial burden in a patient with Fabry disease undergoing hemodialysis: a case report.
BMC nephrologyAssessing brain involvement in Fabry disease with deep learning and the brain-age paradigm.
Human brain mappingFamilial Alzheimer's disease associated with heterozygous NPC1 mutation.
Journal of medical geneticsIntegrative human and murine multi-omics: Highlighting shared biomarkers in the neuronal ceroid lipofuscinoses.
Neurobiology of disease[Argentinean Consensus on the Diagnosis and Treatment of Niemann- Pick Disease Type C].
MedicinaInvestigation of Brain Iron in Niemann-Pick Type C: A 7T Quantitative Susceptibility Mapping Study.
AJNR. American journal of neuroradiologyLinear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8.
GenesThe ovine Type II Gaucher disease model recapitulates aspects of human brain disease.
Biochimica et biophysica acta. Molecular basis of diseaseDeterioration of visual quality and acuity as the first sign of ceroid lipofuscinosis type 3 (CLN3), a rare neurometabolic disease.
Metabolic brain diseaseExome-based gene panel analysis in a cohort of acute juvenile ischemic stroke patients:relevance of NOTCH3 and GLA variants.
Journal of neurologyCompound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A.
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European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyNeuronal genetic rescue normalizes brain network dynamics in a lysosomal storage disorder despite persistent storage accumulation.
Molecular therapy : the journal of the American Society of Gene TherapyNovel frameshift CTSF mutation causing kufs disease type B mimicking frontotemporal dementia-parkinsonism.
NeurocaseCerebrospinal fluid neurofilament light chain levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment.
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NatureNeurodegeneration in Niemann-Pick Type C Disease: An Updated Review on Pharmacological and Non-Pharmacological Approaches to Counteract Brain and Cognitive Impairment.
International journal of molecular sciencesGene Therapy for Parkinson's Disease Associated with GBA1 Mutations.
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Alzheimer's & dementia : the journal of the Alzheimer's Association[Ophthalmological manifestations of neuronal ceroid lipofuscinoses (NCL) : NCL as diseases of brain and retina-the role of ophthalmologists].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen GesellschaftAutosomal dominant neuronal ceroid lipofuscinosis: Clinical features and molecular basis.
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Journal of neurologyCommon Variants Coregulate Expression of GBA and Modifier Genes to Delay Parkinson's Disease Onset.
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Expert opinion on therapeutic targetsFabry Disease With Concomitant Lewy Body Disease.
Journal of neuropathology and experimental neurologyHomozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.
Brain : a journal of neurologyIncreased interactions and engulfment of dendrites by microglia precede Purkinje cell degeneration in a mouse model of Niemann Pick Type-C.
Scientific reportsPharmacological approaches to tackle NCLs.
Biochimica et biophysica acta. Molecular basis of diseaseNiemann-Pick type C: contemporary diagnosis and treatment of a classical disorder.
Practical neurologyEvolution of prodromal parkinsonian features in a cohort of GBA mutation-positive individuals: a 6-year longitudinal study.
Journal of neurology, neurosurgery, and psychiatryLaboratory diagnosis of the Niemann-Pick type C disease: an inherited neurodegenerative disorder of cholesterol metabolism.
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Brain & developmentCurrent and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses.
CNS drugsMolecular mechanisms of the juvenile form of Batten disease: important role of MAPK signaling pathways (ERK1/ERK2, JNK and p38) in pathogenesis of the malady.
Biology directKufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
Brain : a journal of neurologyRare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia.
Acta neuropathologicaEarly lysosomal maturation deficits in microglia triggers enhanced lysosomal activity in other brain cells of progranulin knockout mice.
Molecular neurodegenerationCompromised astrocyte function and survival negatively impact neurons in infantile neuronal ceroid lipofuscinosis.
Acta neuropathologica communicationsAn Alzheimer's Disease-Linked Loss-of-Function CLN5 Variant Impairs Cathepsin D Maturation, Consistent with a Retromer Trafficking Defect.
Molecular and cellular biologyHepatosplenomegaly, pneumopathy, bone changes and fronto-temporal dementia: Niemann-Pick type B and SQSTM1-associated Paget's disease in the same individual.
Journal of bone and mineral metabolismThe motor and cognitive features of Parkinson's disease in patients with concurrent Gaucher disease over 2 years: a case series.
Journal of neurologyD409H GBA1 mutation accelerates the progression of pathology in A53T α-synuclein transgenic mouse model.
Acta neuropathologica communicationsOccipital epilepsy versus progressive myoclonic epilepsy in a patient with continuous occipital spikes and photosensitivity in electroencephalogram: A case report.
MedicineMendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3.
Neurobiology of agingProgranulin Gene Therapy Improves Lysosomal Dysfunction and Microglial Pathology Associated with Frontotemporal Dementia and Neuronal Ceroid Lipofuscinosis.
The Journal of neuroscience : the official journal of the Society for NeuroscienceAdult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): Integrating the literature on hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD).
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaProgranulin-mediated deficiency of cathepsin D results in FTD and NCL-like phenotypes in neurons derived from FTD patients.
Human molecular geneticsSingle Gene Causes of Stroke.
Seminars in neurologyCognition and anatomy of adult Niemann-Pick disease type C: Insights for the Alzheimer field.
Cognitive neuropsychologyIndividuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis.
Science translational medicineThe hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.
Current medical research and opinionGenome sequencing in a case of Niemann-Pick type C.
Cold Spring Harbor molecular case studiesGo Fly a Chitin: The Mystery of Chitin and Chitinases in Vertebrate Tissues.
Frontiers in bioscience (Landmark edition)Beyond Krabbe's disease: The potential contribution of galactosylceramidase deficiency to neuronal vulnerability in late-onset synucleinopathies.
Journal of neuroscience researchDiagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis.
Molecular genetics and metabolismCLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis).
Pediatric endocrinology reviews : PERNeurodegeneration and Epilepsy in a Zebrafish Model of CLN3 Disease (Batten Disease).
PloS oneClinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry.
StrokeAltered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C.
Acta neuropathologica communicationsNecroptosis in Niemann-Pick disease, type C1: a potential therapeutic target.
Cell death & diseaseHereditary Parkinsonism-Associated Genetic Variations in PARK9 Locus Lead to Functional Impairment of ATPase Type 13A2.
Current protein & peptide scienceLate-Onset Metachromatic Leukodystrophy with Early Onset Dementia Associated with a Novel Missense Mutation in the Arylsulfatase A Gene.
Journal of Alzheimer's disease : JADMiglustat Reverts the Impairment of Synaptic Plasticity in a Mouse Model of NPC Disease.
Neural plasticityPrevalence of CADASIL and Fabry Disease in a Cohort of MRI Defined Younger Onset Lacunar Stroke.
PloS oneImaging in Glucocerebrosidase-Associated Parkinsonism: Current Status and Implications for Pathophysiology.
Neuro-degenerative diseasesRapid and Progressive Regional Brain Atrophy in CLN6 Batten Disease Affected Sheep Measured with Longitudinal Magnetic Resonance Imaging.
PloS oneElectroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations.
NeurologyCongenital CLN disease in two siblings.
Wiener medizinische Wochenschrift (1946)Family History in Young Patients With Stroke.
StrokeIntrathecal enzyme replacement therapy improves motor function and survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis.
Molecular genetics and metabolismIncreased Expression of the Large Conductance, Calcium-Activated K+ (BK) Channel in Adult-Onset Neuronal Ceroid Lipofuscinosis.
PloS oneEthical issues with artificial nutrition of children with degenerative brain diseases.
Biochimica et biophysica actaAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Brain-Directed AAV Gene Therapy Rescues a Mouse Model of the CLN5 Form of Neuronal Ceroid Lipofuscinosis Disease and Normalizes a Blood Plasma Biomarker of Neurodegeneration.
- Adult-onset Niemann-Pick disease type C presenting as progressive chorea mimicking Huntington's disease.
- Gut-Brain Interactions in Neuronal Ceroid Lipofuscinoses: A Systematic Review Beyond the Brain in Paediatric Dementias.
- Speech, Language and Non-verbal Communication in CLN2 and CLN3 Batten Disease.
- Expanding the Neurological Phenotype of Anderson-Fabry Disease: Proof of Concept for an Extrapyramidal Neurodegenerative Pattern and Comparison with Monogenic Vascular Parkinsonism.
- Familial Alzheimer's disease associated with heterozygous NPC1 mutation.
- [Argentinean Consensus on the Diagnosis and Treatment of Niemann- Pick Disease Type C].
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:98544(Orphanet)
- MONDO:0020143(MONDO)
- GARD:19491(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q18553924(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
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