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Medical AI Inquiry: You was designed to assist in medical decision-making based on the provided user questions. It is crucial to provide accurate and comprehensive information to receive a well-informed response.  Labels: BACKGROUND, METHODS, RESULTS. Meshes: Adult, Aged, Cerebellar Ataxia, Databases, Bibliographic, Enkephalins, Female, Genetic Predisposition to Disease, Genetic Testing, Heat-Shock Proteins, Humans, Lamin Type B, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Nerve Tissue Proteins, Nuclear Proteins, Phenotype, Protein Precursors, RNA Helicases, Transglutaminases.
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Are mutations in rare ataxia genes uncommon causes of sporadic cerebellar ataxia? Context: Sporadic-onset ataxia is common in a tertiary care setting but a significant percentage remains unidentified despite extensive evaluation. Rare genetic ataxias, reported only in specific populations or families, may contribute to a percentage of sporadic ataxia. Patients with adult-onset sporadic ataxia, who tested negative for common genetic ataxias (SCA1, SCA2, SCA3, SCA6, SCA7, and/or Friedreich ataxia), were evaluated using a stratified screening approach for variants in 7 rare ataxia genes. We screened patients for published mutations in SYNE1 (n = 80) and TGM6 (n = 118), copy number variations in LMNB1 (n = 40) and SETX (n = 11), sequence variants in SACS (n = 39) and PDYN (n = 119), and the pentanucleotide insertion of spinocerebellar ataxia type 31 (n = 101). Overall, we identified 1 patient with a LMNB1 duplication, 1 patient with a PDYN variant, and 1 compound SACS heterozygote, including a novel variant.
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The rare genetic ataxias examined here do not significantly contribute to sporadic cerebellar ataxia in our tertiary care population. Final Decision: yes