Apraxia ocular motora, tipo Cogan, é caracterizada por comprometimento dos movimentos oculares horizontais voluntários e impulso compensatório da cabeça. Cerca de 50 casos foram descritos até agora. As manifestações oculomotoras tendem a melhorar com a idade, mas a síndrome também pode estar associada a dificuldades de aprendizagem e de fala ou, em alguns casos, a malformações cerebrais. Foram descritas formas esporádicas e familiares, sendo as formas esporádicas mais frequentes. O modo de transmissão da forma familiar ainda não foi claramente estabelecido. Um gene localizado no braço longo do cromossomo 2, próximo ao gene NPHP1 envolvido na nefronoftise, pode estar associado à apraxia motora ocular, tipo Cogan.
Introdução
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Apraxia ocular motora, tipo Cogan, é caracterizada por comprometimento dos movimentos oculares horizontais voluntários e impulso compensatório da cabeça. Cerca de 50 casos foram descritos até agora. As manifestações oculomotoras tendem a melhorar com a idade, mas a síndrome também pode estar associada a dificuldades de aprendizagem e de fala ou, em alguns casos, a malformações cerebrais. Foram descritas formas esporádicas e familiares, sendo as formas esporádicas mais frequentes. O modo de transmissão da forma familiar ainda não foi claramente estabelecido. Um gene localizado no braço longo do cromossomo 2, próximo ao gene NPHP1 envolvido na nefronoftise, pode estar associado à apraxia motora ocular, tipo Cogan.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Genética e causas
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🇧🇷 Atendimento SUS — Apraxia ocular motora, tipo Cogan
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Publicações mais relevantes
Bálint Syndrome From Posterior Cerebral Artery Infarctions Case Report.
Bálint syndrome is a debilitating, rare neurological condition characterized by a triad of visuospatial distortions: simultanagnosia, optic ataxia, and oculomotor apraxia. We highlight the pathways involved with infarction of the posterior cerebral artery (PCA), which may be an important underlying factor leading to the development of clinical presentations found in Bálint syndrome. We present a case of a middle-aged patient who presents with Bálint syndrome following a PCA infarction. A 49-year-old male bus driver with a recent PCA infarction presented with all 3 components of Bálint syndrome. His clinical course was notable for simultanagnosia, optic ataxia, oculomotor apraxia, and a right greater than left lower visual field deficit. Neuroimaging revealed infarctions in the P1 and bilateral P2 segments of the posterior cerebral arteries, affecting the parieto-occipital regions known to underlie visuospatial processing. Laboratory workup helped exclude opportunistic and systemic causes, supporting a stroke-related etiology. Posterior cerebral artery infarctions may be responsible for the clinical presentation of Bálint syndrome; however, further investigation into vascular and neuronal networks underlying the clinical signs and symptoms of Bálint syndrome is needed.
Approach to Oculomotor Apraxia: A Syndromic Approach to Genetic Causes.
Oculomotor apraxia (OMA), the clinical manifestation of impaired voluntary initiation of saccadic eye movements, has long been associated with several disorders and genetic mutations in the literature. The present study aims to review all the disorders and genetic mutations associated with OMA reported in the literature. PubMed, MEDLINE, Scopus, EMBASE, and Web of Science databases were systematically searched for related keywords, and related publications from January 2000 to January 2024 were reviewed. All the disorders and genetic mutations presented with OMA in the literature were reported. Clinical manifestations of the congenital disorders- particularly members of autosomal recessive cerebellar ataxias- including Joubert syndrome, ataxia with oculomotor apraxia, ataxia-telangiectasia, and other disorders were discussed, Additionally, the pathophysiology of the genetic mutations in the anatomical pathway of OMA is discussed in this paper. Most of the cases with OMA present this sign early in their disease course; thus, evaluating the possible differential diagnoses can guide clinicians to a more accurate diagnosis. Understanding the spectrum of disorders and clinical manifestations with OMA also provides valuable insights into further clinic-pathological and genetic evaluations of this clinical manifestation.
Developing a disease-specific accessible transcriptional signature as a biomarker for ataxia with oculomotor apraxia type 2.
Genetic ataxias are clinically heterogenous neurodegenerative conditions often involving rare or private mutations and it is often difficult to assign pathogenicity to rare gene variants solely based on DNA sequencing. An effective functional assay from an easy-to-obtain biospecimen would aid this assessment and be of high clinical value. SETX encodes a ubiquitous DNA/RNA helicase crucial for resolving R-loops and maintaining genome stability. Loss-of-function mutations cause a recessive disorder, Ataxia with Oculomotor Apraxia Type 2 (AOA2). Here we utilize Weighted Gene Co-expression Network Analysis (WGCNA) from patient blood to construct an AOA2-specific transcriptomic signature as a biomarker to evaluate SETX variants in patients clinically suspected of having AOA2. WGCNA from peripheral blood RNA of 11 AOA2 patients from 7 families initially identified a single gene module that was modestly effective in distinguishing individuals with AOA2 from controls (sensitivity 73%, specificity 97%) and was able to robustly differentiate AOA2 patients from those with genetically distinct, yet phenotypically similar, neurological disorders (sensitivity 100%, specificity 100%). An independent derivation of the transcriptional biomarker identified a dual module model that was able to better distinguish individuals with AOA2 from controls (sensitivity 100%, specificity 97%). As validation, we examined a second cohort of 21 patients from 13 families and demonstrate that this dual module transcriptional biomarker could discriminate patients clinically suspected of AOA2 from controls (57%, 95%CI: 34%-78%). Overall, the transcriptional biomarker was able to separate AOA2 subjects (n = 32) from controls (n = 35) with 72% sensitivity and 97% specificity. Notably, this transcriptomic biomarker enabled verification of the first pathogenic SETX mutation found in a non-canonical transcript, expanding the spectrum of mutations that contribute to AOA2. Our study identified a transcriptional biomarker that was able to differentiate AOA2 from controls and from other related neurological disorders, consequently expanding the spectrum of known pathogenic mutations. This proof-of-concept study illustrates that transcriptional biomarkers may be used to validate variants of uncertain significance in known genetic diseases.
Developmental, Cognitive, Ocular Motor, and Neuroimaging Findings Related to SUFU Haploinsufficiency: Unraveling Subtle and Highly Variable Phenotypes.
Biallelic SUFU variants have originally been linked to Joubert syndrome, comprising cerebellar abnormalities, dysmorphism, and polydactyly. In contrast, heterozygous truncating variants have recently been associated with developmental delay and ocular motor apraxia, but only a limited number of patients have been reported. Here, we aim to delineate further the mild end of the phenotypic spectrum related to SUFU haploinsufficiency. Nine individuals (from three unrelated families) harboring truncating SUFU variants were investigated, including two previously reported individuals (from one family). We provide results from a comprehensive assessment comprising neuroimaging, neuropsychology, video-oculography, and genetic testing. We identified three inherited or de novo truncating variants in SUFU (NM_016169.4): c.895C>T p.(Arg299∗), c.71dup p.(Ala25Glyfs∗23), and c.71del p.(Pro24Argfs∗72). The phenotypic expression showed high variability both between and within families. Clinical features include motor developmental delay (seven of nine), axial hypotonia (five of nine), ocular motor apraxia (three of nine), and cerebellar signs (three of nine). Four of the six reported children had macrocephaly. Neuropsychological and developmental assessments revealed mildly delayed language development in the youngest children, whereas general cognition was normal in all variant carriers. Subtle but characteristic SUFU-related neuroimaging abnormalities (including superior cerebellar dysplasia, abnormalities of the superior cerebellar peduncles, rostrally displaced fastigium, and vermis hypoplasia) were observed in seven of nine individuals. Our data shed further light on the mild but recognizable features of SUFU haploinsufficiency and underline its marked phenotypic variability, even within families. Notably, neurodevelopmental and behavioral abnormalities are mild compared with Joubert syndrome and seem to be well compensated over time.
Persistence of Infantile-Onset Saccade Initiation Delay (Congenital Ocular Motor Apraxia): An Update on a Young Adult.
Publicações recentes
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📚 EuropePMCmostrando 73
Bálint Syndrome From Posterior Cerebral Artery Infarctions Case Report.
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Pediatric neurologyAssociações
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Referências e fontes
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Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Bálint Syndrome From Posterior Cerebral Artery Infarctions Case Report.
- Approach to Oculomotor Apraxia: A Syndromic Approach to Genetic Causes.
- Developing a disease-specific accessible transcriptional signature as a biomarker for ataxia with oculomotor apraxia type 2.
- Developmental, Cognitive, Ocular Motor, and Neuroimaging Findings Related to SUFU Haploinsufficiency: Unraveling Subtle and Highly Variable Phenotypes.
- Persistence of Infantile-Onset Saccade Initiation Delay (Congenital Ocular Motor Apraxia): An Update on a Young Adult.The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques· 2024· PMID 36695152mais citado
- Congenital Ocular Motor Apraxia as the First Sign of Joubert Syndrome: A Case Report.
- Early-Onset Ataxia with Oculo-Motor Apraxia and Hypoalbuminemia - A Rare Case Report from South Indian Region.
- Atypical features including acquired oculomotor apraxia in C9orf72-associated familial primary lateral sclerosis.
- A Review of the Ocular Phenotype and Correlation with Genotype in Poretti-Boltshauser Syndrome.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:1125(Orphanet)
- OMIM OMIM:257550(OMIM)
- MONDO:0009764(MONDO)
- GARD:16(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55998700(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.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar