TY - JOUR
T1 - Hereditary sensory neuropathy type 1 in a Portuguese family - Electrodiagnostic and autonomic nervous system studies
AU - Geraldes, Ruth
AU - De Carvalho, Mamede
AU - Santos-Bento, Mariana
AU - Nicholson, Garth
PY - 2004/12/15
Y1 - 2004/12/15
N2 - Hereditary sensory and autonomic neuropathy type 1 (HSAN 1) is a dominantly inherited disorder; its gene locus is mapped on chromosome 9q22. Three different missense mutations (C133Y, C133W and V144D) have been described in 11 families from Australia, England and Austria. Common clinical features have been found in these families. We report the clinical and electrophysiological features of three members of a large Portuguese family with HSAN 1 and the C133Y missense mutation. The affected members showed typical clinical features. Electrophysiological findings were consistent with a distal axonal predominantly sensory neuropathy with motor involvement, in three different severity stages. No autonomic involvement was detected in sudomotor and cardiovascular tests. This report documents the lesion of the motor nerve fibers in this disease, as well as the preservation of the autonomic nervous system function, therefore suggesting that HSNA is an inappropriate name for this disorder.
AB - Hereditary sensory and autonomic neuropathy type 1 (HSAN 1) is a dominantly inherited disorder; its gene locus is mapped on chromosome 9q22. Three different missense mutations (C133Y, C133W and V144D) have been described in 11 families from Australia, England and Austria. Common clinical features have been found in these families. We report the clinical and electrophysiological features of three members of a large Portuguese family with HSAN 1 and the C133Y missense mutation. The affected members showed typical clinical features. Electrophysiological findings were consistent with a distal axonal predominantly sensory neuropathy with motor involvement, in three different severity stages. No autonomic involvement was detected in sudomotor and cardiovascular tests. This report documents the lesion of the motor nerve fibers in this disease, as well as the preservation of the autonomic nervous system function, therefore suggesting that HSNA is an inappropriate name for this disorder.
KW - Dysautonomia
KW - Electromyography
KW - Hereditary sensory neuropathy
KW - Portuguese family
KW - Skin changes
UR - http://www.scopus.com/inward/record.url?scp=8544239344&partnerID=8YFLogxK
U2 - 10.1016/j.jns.2004.08.002
DO - 10.1016/j.jns.2004.08.002
M3 - Article
C2 - 15546589
AN - SCOPUS:8544239344
SN - 0022-510X
VL - 227
SP - 35
EP - 38
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
IS - 1
ER -