title: Late-onset Tay-Sachs disease: the spectrum of peripheral neuropathy in 30 affected patients.
abstract: Late-onset Tay-Sachs (LOTS) disease is a chronic, progressive, lysosomal storage disorder caused by a partial deficiency of beta-hexosaminidase A (HEXA) activity. Deficient levels of HEXA result in the intracellular accumulation of GM2-ganglioside, resulting in toxicity to nerve cells. Clinical manifestations primarily involve the central nervous system (CNS) and lower motor neurons, and include ataxia, weakness, spasticity, dysarthria, dysphagia, dystonia, seizures, psychosis, mania, depression, and cognitive decline. The prevalence of peripheral nervous system (PNS) involvement in LOTS has not been well documented, but it has traditionally been thought to be very low. We examined a cohort of 30 patients with LOTS who underwent clinical and electrophysiologic examination, and found evidence of a predominantly axon loss polyneuropathy affecting distal nerve segments in the lower and upper extremities in eight patients (27%).
authors.affiliation: Neuromuscular Division, Department of Neurology, Neurological Institute, University Hospitals Case Medical Center, Cleveland, Ohio, USA. bes002@aol.com
authors.forename: Barbara E
authors.initials: BE
authors.lastname: Shapiro
authors.forename: Eric L
authors.initials: EL
authors.lastname: Logigian
authors.forename: Edwin H
authors.initials: EH
authors.lastname: Kolodny
authors.forename: Gregory M
authors.initials: GM
authors.lastname: Pastores
mesh_terms: D000200:Action Potentials / Q000502:physiology; D000328:Adult; D004576:Electromyography; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000503:physiopathology; D009431:Neural Conduction / Q000502:physiology; D010523:Peripheral Nervous System Diseases / Q000209:etiology* / Q000473:pathology; D013661:Tay-Sachs Disease / Q000150:complications*