Adult-onset hereditary sensory and autonomic neuropathy accompanied by anosmia but without skin ulceration.
We report a novel type of hereditary sensory and autonomic neuropathy (HSAN) with adult onset in a Japanese family. One male and 2 females of 6 siblings were affected. They developed anosmia initially at the ages of 20-50 years, followed by anhidrosis and sensory loss. Skin ulceration was absent. Both superficial and deep sensation were impaired in the most distal parts of all 4 limbs. Orthostatic hypotension was present in all patients. This is a unique subtype of HSAN distinct from the HSAN I-V described by Dyck.
Sakae
N
N
Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, Japan. sakae@neuro.med.kyushu-u.ac.jp
Yamada
T
T
Arakawa
K
K
Taniwaki
T
T
Ohyagi
Y
Y
Furuya
H
H
Ohnishi
A
A
Kira
J
J
D000328:Adult; D017668:Age of Onset; D005260:Female; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000473:pathology*; D006801:Humans; D007007:Hypohidrosis; D007024:Hypotension, Orthostatic / Q000209:etiology*; D008297:Male; D008875:Middle Aged; D000857:Olfaction Disorders / Q000209:etiology*; D012678:Sensation Disorders