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Sensory neuropathy in infantile onset spinocerebellar ataxia (IOSCA)
Author(s) -
Koskinen Tuula,
Sainio Kimmo,
Rapola Juhani,
Pihko Helena,
Paetau Anders
Publication year - 1994
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.880170507
Subject(s) - sural nerve , medicine , somatosensory evoked potential , sensory system , ataxia , sensory nerve , nerve biopsy , nerve conduction study , anatomy , peripheral neuropathy , pathology , nerve conduction , neuroscience , anesthesia , psychology , surgery , endocrinology , psychiatry , diabetes mellitus
Infantile onset spinocerebellar ataxia with sensory neuropathy is a new, inherited multisystem disorder discovered in 19 Finnish patients. In order to define the neuropathy of the disease, we measured sensory nerve action potentials and nerve conduction velocities in 18 patients, and recorded somatosensory evoked potentials (SEP) in 10 patients and performed a sural nerve biopsy in 13 patients. The fixed and teased nerve fascicles were examined by light and electron microscopy, and the whole transverse section of a nerve fascicle was photographed and enlarged for morphometric measurements. Our investigation revealed an early onset, rapidly progressive axonal neuropathy: the sensory action potentials were decreased after the age of 2 and a severe loss of mainly large myelinated fibers was found. © 1994 John & Sons, Inc.