Sensory neuropathy in infantile onset spinocerebellar ataxia (IOSCA).
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.
Koskinen
T
T
Department of Child Neurology, Children's Hospital, University of Helsinki, Finland.
Sainio
K
K
Rapola
J
J
Pihko
H
H
Paetau
A
A
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004558:Electric Stimulation; D004576:Electromyography; D005073:Evoked Potentials, Somatosensory / Q000502:physiology*; D005260:Female; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000503:physiopathology*; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009431:Neural Conduction / Q000502:physiology; D013132:Spinocerebellar Degenerations / Q000503:physiopathology*; D013497:Sural Nerve / Q000473:pathology / Q000503:physiopathology / Q000648:ultrastructure