Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome).

Clinical, Radiological, and Genetic Profile of Patients with FA2H-Associated Neurodegeneration: Eight Cases from India and a Review of the Literature.

Neuroradiological Phenotype Expansion of the Siddiqi Syndrome: A Case Report.

The Cerebellar Cognitive-Affective Syndrome Scale Reveals Consistent, Early, and Progressive Neuropsychological Deficits in Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Large International Cross-Sectional Study.

Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.

The genetics of autosomal recessive ALS: a review of the common forms and their phenotypes.

Multiple Mitochondrial Dysfunction Syndrome Caused by IBA57 Gene Mutation: A Case Report and Literature Review.

Webb-Dattani syndrome in a 17-year-old girl.

Deciphering Spastic Ataxia: Clinical and Genetic Profiles.

USP18 gene mutation associated with recurrent encephalopathy, intracranial calcification, and microcephaly: case report, long-term follow-up, and literature review.

Nerve Ultrasound in Pediatric Polyneuropathies: A Systematic Review.

Teaching NeuroImage: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Syndrome: The Diagnostic Value of Structural MRI and Diffusion Tensor Imaging Biomarkers.

SPOAN Syndrome in Southern Brazil: Case Report and New Insights.

Kohlschütter-Tönz Syndrome: A Rare Clinical Entity with Amelogenesis Imperfecta in Two Siblings, Dental Management and Scoping Review.

Pearls & Oy-sters: Adult-Onset Coats Plus: A Case of Leukoencephalopathy With Calcifications, a Tumefactive Brain Lesion, and a Presumed Autoimmune Disease.

"Deep Brain Stimulation of the Ventral Intermediate Nucleus of the Thalamus for Tremor in Polr3a-Related Tremor-ataxia Syndrome: A Two-case Report".

Unravelling neurodegeneration with cerebral calcifications: Krabbe disease masquerading as Aicardi-Goutieres syndrome.

Clinical and genetic analysis of ERCC8-Related cockayne syndrome: hepatic dysfunction as a biomarker, anhidrosis as a rare feature, and rehabilitation outcomes for ankle contractures.

Uncommon Allies: Van der Knaap Syndrome and Focal Segmental Glomerulosclerosis.

Expanding the Epidemiological and Phenotypic Spectrum of MEGDEL Syndrome: The First Case Report From Egypt.

Case Report: Novel ATP13A2 pathogenic variants associated with early-onset parkinsonism and a mini-review.

Yield of Whole Exome Sequencing in Children With Cryptogenic Cerebral Palsy.

Maternal uniparental isodisomy in a patient with autosomal recessive spastic paraplegia type 20.

French guidelines for the diagnosis and management of pure hereditary spastic paraplegia.

Ultra-Widefield Swept-Source OCTA Findings in Coats Plus Syndrome.

Expanding the spectrum of ATP8A2 mutations: a new splicing variant and systematic review of CAMRQ4 syndrome.

A Case Report of a Child With Rare Phosphatidylinositol Glycan Anchor Biosynthesis Class N (PIGN) Gene Mutation With Hypotonia, Epilepsy, and Global Developmental Delay.

A case series of nine patients with cerebrotendinous xanthomatosis from India and a systematized review of Indian literature.

Oculodentodigital Dysplasia Presenting as Spastic Ataxic Syndrome in an Indian Patient.

Blended phenotype of TECPR2-associated hereditary sensory-autonomic neuropathy and Temple syndrome.

Cerebrotendinous xanthomatosis: A complex interplay between a clinically and genetically heterogeneous condition.

[A case of rare hereditary Siddiqi syndrome with novel neuropsychiatric signs].

From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.

STUB1-Associated Autosomal-Recessive Spinocerebellar Ataxia Type 16 (SCAR16) Presenting with Gordon-Holmes Syndrome Caused by Maternal Uniparental Isodisomy.

Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte-lineage cells established from patients with Sjögren-Larsson syndrome.

Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder.

A novel missense mutation in ISCA2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4.

Inherited white matter disorders: Hypomyelination (myelin disorders).

Novel autosomal recessive SINO syndrome-associated KIDINS220 variants provide insight into the genotype-phenotype correlation.

Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.

Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility.

Canine RNF170 Single Base Deletion in a Naturally Occurring Model for Human Neuroaxonal Dystrophy.

Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases.

Phenotypic variability related to dominant UCHL1 mutations: about three families with optic atrophy and ataxia.

Postoperative hyperammonemic encephalopathy due to unexpected constipation in a patient with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: a case report.

Autosomal Recessive Spastic Paraplegia and Psychomotor Retardation With or Without Seizures: A Case Report From Saudi Arabia.

Spondyloenchondrodysplasia With Immune Dysregulation, but Without Skeletal Dysplasia, in a Six-Year-Old Boy: A Case Report.

Case report: Early-onset Parkinson's disease with lower limb spasticity in a new DJ-1/PARK7 patient.

A Missense Variant in HACE1 Is Associated with Intellectual Disability, Epilepsy, Spasticity, and Psychomotor Impairment in a Pakistani Kindred.

An Ultra-Rare Mixed Phenotype with Combined AP-4 and ERF Mutations: The First Report in a Pediatric Patient and a Literature Review.

Segawa Syndrome, a Dramatic Response to Dopamine.

Compound heterozygous mutations in three Chinese patients of Segawa syndrome and their treatment outcomes.

RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.

Hereditary spastic paraparesis type 18 (SPG18): new ERLIN2 variants in a series of Italian patients, shedding light upon genetic and phenotypic variability.

Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals.

Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature.

PCYT2 deficiency in Saarlooswolfdogs with progressive retinal, central, and peripheral neurodegeneration.

Delayed Diagnosis of Perrault Syndrome: A Rare Genetic Disorder.

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.

Spartin-mediated lipid transfer facilitates lipid droplet turnover.

The Rogdi knockout mouse is a model for Kohlschütter-Tönz syndrome.

Vestibular Hypofunction in ARSACS Syndrome: A Possible Pitfall in the Differential Diagnosis of Recessive Cerebellar and Afferent Ataxias.

Novel Homozygous Variants of SLC13A5 Expand the Functional Heterogeneity of a Homogeneous Syndrome of Early Infantile Epileptic Encephalopathy.

GRM7-related disorder: five additional patients from three independent families and review of the literature.

Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141, DDHD2, and LHFPL5.

Sjogren-Larsson syndrome brain volumetric reductions demonstrated with an automated software.

The hereditary spastic paraplegias.

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.

The Troyer syndrome protein spartin mediates selective autophagy of lipid droplets.

The first reports of FA2H-associated neurodegeneration from two unrelated Iranian families.

Chediak-Higashi syndrome.

Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.

End-stage crystalline maculopathy with retinal atrophy in Sjögren-Larsson syndrome: a case report and review of the literature.

The Gross, Fine, and Oral Motor Functions in a Patient with Megalencephalic Leukoencephalopathy with Subcortical Cyst: A Case Report.

Sjögren-Larsson Syndrome: A Rare Presentation With Developmental Delay.

Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome.

TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature.

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.

Early arteriopathy in Aicardi-Goutières syndrome 5. Case report and review of literature.

Pre- and Postnatal Characterization of Autosomal Recessive KIDINS220-Associated Ventriculomegaly.

Whole-Exome Sequencing and Copy Number Analysis in a Patient with Warburg Micro Syndrome.

Previously Undescribed Gross HACE1 Deletions as a Cause of Autosomal Recessive Spastic Paraplegia.

Blended Phenotype of Prader-Willi Syndrome and HSP-SPG11 Caused by Maternal Uniparental Isodisomy.

Clinical heterogeneity of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in thirteen palestinian patients and report of a novel variant in the SLC25A15 gene.

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay due to Novel Mutations in the SACS Gene.

Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.

Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity.

Expanding SPG7 dominant optic atrophy phenotype: Infantile nystagmus and optic atrophy without spastic paraplegia.

Bardet-Biedl Syndrome: A Rare Case From Ophthalmology Perspective.

Kjellin's syndrome: Spastic paraplegia and multifocal pattern dystrophy simulating fundus flavimaculatus.

A Case Report and Literature Review of Pseudo-TORCH Syndrome Type 2 (PTORCH2).

Spastic paraplegia 51: phenotypic spectrum related to novel homozygous AP4E1 mutation.

The perinatal phenotype of Troyer syndrome: Case report and literature review.

Case report: Huppke-Brendel syndrome in an adult, mistaken for and treated as Wilson disease for 25 years.

Cutaneous squamous cell carcinoma in an autosomal-recessive Adams-Oliver syndrome patient with a novel frameshift pathogenic variant in the EOGT gene.

TRIT1 defect leads to a recognizable phenotype of myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and normal lactate levels.

Patient-Derived iPSCs Reveal Evidence of Telomere Instability and DNA Repair Deficiency in Coats Plus Syndrome.

A PNPLA8 frameshift variant in Australian shepherd dogs with hereditary ataxia.

PSMC1 variant causes a novel neurological syndrome.

Novel EPG5 Mutation Associated with Vici Syndrome Gene.

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.

Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND ): Time to Move Beyond the Skin.

Methylation Heterogeneity and Gene Expression of SPG20 in Solid Tumors.

Compound Heterozygous Mutations Presented with Quadriparesis and Menopause. A Case Report.

Coats plus in prematurity.

Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family.

Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia.

El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.

Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5.

Coats Plus syndrome: a diagnostic and therapeutic challenge in pediatric gastrointestinal hemorrhage.

Coats plus syndrome: a rare cause of severe gastrointestinal tract bleeding in children - a case report.

Molybdenum cofactor deficiency: A natural history.

Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series.

Family planning decisional needs assessment for recessive hereditary disorders: Insights from carrier couples and professionals.

Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorder.

Primary Ovarian Failure in Addition to Classical Clinical Features of Coats Plus Syndrome in a Female Carrying 2 Truncating Variants of CTC1.

Three Adult-Onset Autosomal Recessive Ataxias: What Adult Neurologists Need to Know.

Identification of two novel homozygous mutations in ERCC8 gene in two unrelated consanguineous families with Cockayne syndrome from Iran.

Pallidal degenerations and related disorders: an update.

Incidental Finding of MEGDEL Syndrome Based on Neuroimaging: Case Report.

Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype.

Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome.

[Aicardi-Goutieres syndrome: a family case due to alteration of the RNASEH2B gene].

Cognitive dysfunction and psychosis: expanding the phenotype of SPG7.

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Genetics of primary lateral sclerosis.

Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh.

Wiedemann-Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A.

Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7.

The Downregulation of c19orf12 Negatively Affects Neuronal and Musculature Development in Zebrafish Embryos.

Adult polyglucosan body disease: an acute presentation leading to unmasking of this rare disorder.

Congenital cervical spine malformation due to bi-allelic RIPPLY2 variants in spondylocostal dysostosis type 6.

Successful liver transplantation in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: Case report.

A novel PNPLA6 mutation in a Turkish family with intractable Holmes tremor and spastic ataxia.

Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia.

Lessons learned from surgical management of craniovertebral instability in Morquio syndrome: A series of four unusual cases.

Novel mutations in ATP13A2 associated with mixed neurological presentations and iron toxicity due to nonsense-mediated decay.

Clinical Features and Molecular Genetics of Autosomal Recessive Ataxia in the Turkish Population.

Sjogren-Larsson Syndrome: A case series of five members from an extended family with a novel mutation.

A genetic mimic of cerebral palsy: Homozygous NFU1 mutation with marked intrafamilial phenotypic variation.

Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.

A novel missense mutation (c.1006C>T) of SPG20 gene associated with Troyer syndrome.

Pyrostigmine therapy in a patient with VAMP1-related congenital myasthenic syndrome.

Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity Mapping.

Prophylactic Decompression for Cervical Stenosis in Jeune Syndrome: Report From a Single Institution.

Degeneration of dopaminergic neurons and impaired intracellular trafficking in Atp13a2 deficient zebrafish.

Expanding the genotype-phenotype spectrum of ISCA2-related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survival.

Spinocerebellar ataxia type 48: last but not least.

A novel compound heterozygous missense mutation in ASNS broadens the spectrum of asparagine synthetase deficiency.

Clinical and genetic aspects of hereditary spastic paraplegia in patients from Turkey.

Expanding the clinical and genetic heterogeneity of SPAX5.

Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran.

The FTS-Hook-FHIP (FHF) complex interacts with AP-4 to mediate perinuclear distribution of AP-4 and its cargo ATG9A.

Sjogren-Larsson Syndrome: Mechanisms and Management.

Δ1 -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder.

Compound heterozygous mutations in the ALDH3A2 gene cause Sjögren-Larsson syndrome: a case report.

VPS13D-related disorders presenting as a pure and complicated form of hereditary spastic paraplegia.

An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.

Long-term follow-up until early adulthood in autosomal dominant, complex SPG30 with a novel KIF1A variant: a case report.

Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).

Motor impairment in a rare form of spastic paraplegia (Spoan syndrome): a 10-year follow-up.

Peter Plus Syndrome: A Neurosurgeon's Perspective.

Clinical and ultrastructural findings in an ataxic variant of Kufor-Rakeb syndrome.

[Infant with intracranial calcifications and retinopathy].

Dwarfism in Troyer syndrome: a family with SPG20 compound heterozygous mutations and a literature review.

Syndromic progressive neurodegenerative disease of infancy caused by novel variants in HIBCH: Report of two cases in Colombia.

GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates.

Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case report.

Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities.

Genetic assessment of ten Egyptian patients with Sjögren-Larsson syndrome: expanding the clinical spectrum and reporting a novel ALDH3A2 mutation.

CAPN1 Variants as Cause of Hereditary Spastic Paraplegia Type 76.

Woodhouse-Sakati Syndrome: First report of a Portuguese case.

Autosomal recessive cerebellar ataxia with spasticity due to a rare mutation in GBA2 gene in a large consanguineous Saudi family.

Revealing the functions of novel mutations in RAB3GAP1 in Martsolf and Warburg micro syndromes.

Species-specific differences in nonlysosomal glucosylceramidase GBA2 function underlie locomotor dysfunction arising from loss-of-function mutations.

Daily Functioning and Quality of Life in Patients with Sjögren-Larsson Syndrome.

The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case.

GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability.

ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype.

SEC31A mutation affects ER homeostasis, causing a neurological syndrome.

SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy.

Genotype and phenotype variability in Sjögren-Larsson syndrome.

Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia.

Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation.

Is PNPT1-related hearing loss ever non-syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1-related disorders.

Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.

Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy.

Kufor-Rakeb Syndrome/PARK9: One Novel and One Possible Recurring Ashkenazi ATP13A2 Mutation.

[Hereditary optic neuropathies in pediatric ophthalmology].

TLE1, a key player in neurogenesis, a new candidate gene for autosomal recessive postnatal microcephaly.

Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndrome.

Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia.

A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies.

Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function.

PRUNE Syndrome Is a New Neurodevelopmental Disorder: Report and Review.

Sjögren-Larsson syndrome: definitive diagnosis on magnetic resonance spectroscopy.

Action Myoclonus and Seizure in Kufor-Rakeb Syndrome.

Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias.

Novel mutations and a severe neurological phenotype in Sjögren-Larsson syndrome patients from Iran.