title: [Peripheral neuropathies associated with hereditary cerebellar ataxias].
abstract: Inherited cerebellar ataxias constitute a complicated and heterogeneous group of neurodegenerative disorders affecting the cerebellum and/or spinocerebellar tract, spinal cord and peripheral nerves. A peripheral neuropathy is frequently seen in inherited cerebellar ataxias although it rarely reveals the disease. Moreover, the peripheral neuropathy is helpful for the diagnostic procedure and contributes to the functional prognosis of the disease. Thus, electroneuromyography is essential in the algorithm for the diagnosis of inherited cerebellar ataxias, as well as brain MRI (looking especially for cerebellar atrophy) and the assessment of several biomarkers (alpha-foetoprotein, vitamin E, albumin, LDL cholesterol, lactic acid, phytanic acid).
authors.affiliation: Service de génétique, hôpital de la Pitié-Salpêtrière, AP-HP, 47-83, boulevard de L'Hôpital, 75651 Paris, France. mathieu.anheim@psl.aphp.fr
authors.forename: M
authors.initials: M
authors.lastname: Anheim
authors.forename: C
authors.initials: C
authors.lastname: Tranchant
mesh_terms: D000012:Abetalipoproteinemia / Q000150:complications; D015415:Biomarkers; D001921:Brain / Q000473:pathology; D020739:Brain Diseases, Metabolic, Inborn / Q000150:complications / Q000235:genetics; D002524:Cerebellar Ataxia / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D004576:Electromyography; D005600:Fragile X Syndrome / Q000150:complications / Q000235:genetics; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D020140:Lysosomal Storage Diseases, Nervous System / Q000150:complications / Q000235:genetics; D008279:Magnetic Resonance Imaging; D017240:Mitochondrial Myopathies / Q000150:complications / Q000235:genetics; D010523:Peripheral Nervous System Diseases / Q000209:etiology*; D014811:Vitamin E Deficiency / Q000150:complications / Q000235:genetics
chemical_list: D015415:Biomarkers