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Late‐onset Tay–Sachs disease: The spectrum of peripheral neuropathy in 30 affected patients
Author(s) -
Shapiro Barbara E.,
Logigian Eric L.,
Kolodny Edwin H.,
Pastores Gregory M.
Publication year - 2008
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.21061
Subject(s) - dystonia , medicine , peripheral neuropathy , ataxia , spasticity , peripheral nervous system , weakness , polyneuropathy , sural nerve , central nervous system , pediatrics , pathology , surgery , anesthesia , endocrinology , psychiatry , diabetes mellitus
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%). Muscle Nerve, 2008