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  • Title: Other autosomal recessive and childhood ataxias.
    Author: De Michele G, Filla A.
    Journal: Handb Clin Neurol; 2012; 103():343-57. PubMed ID: 21827899.
    Abstract:
    The label of "early-onset cerebellar ataxia with retained tendon reflexes" (EOCA) has been created to differentiate it from Friedreich ataxia (FRDA) patients with preserved knee jerks and absence of cardiomyopathy, optic atrophy, and diabetes mellitus. However, EOCA is a heterogeneous syndrome and several FRDA patients present with an EOCA-like phenotype. Cerebellar ataxia with hypogonadism is another heterogeneous syndrome for which no locus has been mapped yet. Two peculiar ataxic syndromes have been identified in genetically isolated populations: autosomal recessive ataxia of Charlevoix-Saguenay (ARSACS) in Quebec and infantile-onset spinocerebellar ataxia (IOSCA) in Finland. Both conditions present usually within the second year of life. ARSACS is characterized by marked spasticity and IOSCA by a complex phenotype which includes, besides ataxia, epilepsy, optic atrophy, ophthalmoplegia, hearing loss, and areflexia. The responsible genes are SACS, encoding sacsin, a protein which may act as a chaperone, and C10orf2, encoding Twinkle, a mitochondrial DNA-specific helicase. Marinesco-Sjögren syndrome, clinically characterized by cerebellar ataxia, cataracts, myopathy, and mental retardation, is genetically heterogeneous. One gene, SIL1, encodes a nucleotide exchange factor for the heat-shock protein 70 chaperone HSPA5. Five conditions account for most cases of progressive myoclonic ataxia: Unverricht-Lundborg disease, Lafora disease, myoclonic epilepsy with ragged-red fibers, neuronal ceroid lipofuscinoses, and sialidoses.
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