Hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA): clinical and neuropathological features of a Japanese family.
We report clinicopathological features of a Japanese family with hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA). Four affected members from a single generation were examined. They shared common clinical features, including insidious onset in teenage, slowly progressive cerebellar ataxia, amyotrophy, sensory disturbance, and dementia. In addition, all the patients showed hypoalbuminemia and hyperlipidemia and a marked atrophy of the cerebellum on magnetic resonance images. Autopsy of the proband revealed a severe loss of Purkinje cells, degeneration of posterior columns and spinocerebellar tracts of the spinal cord, and a marked loss of myelinated and unmyelinated fibers in the peripheral nerves. We consider that HMSNCA is a distinct form of hereditary multisystem neuronal degeneration.
Department of Medicine (Neurology), Saku Central Hospital, Usuda, Japan. ysekiji@gipac.shinshu-u.ac.jp
Y
Y
Sekijima
S
S
Ohara
S
S
Nakagawa
K
K
Tabata
K
K
Yoshida
H
H
Ishigame
Y
Y
Shimizu
N
N
Yanagisawa
D017668:Age of Onset; D001284:Atrophy; D002524:Cerebellar Ataxia / Q000235:genetics* / Q000473:pathology; D002531:Cerebellum / Q000473:pathology*; D003704:Dementia / Q000235:genetics / Q000473:pathology; D003711:Demyelinating Diseases / Q000235:genetics* / Q000473:pathology; D018450:Disease Progression; D005260:Female; D005808:Genes, Recessive; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics* / Q000473:pathology; D006801:Humans; D006949:Hyperlipidemias / Q000235:genetics; D007564:Japan; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009069:Movement Disorders / Q000235:genetics / Q000473:pathology; D009410:Nerve Degeneration / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D010525:Peripheral Nerves / Q000473:pathology; D011689:Purkinje Cells / Q000473:pathology; D012709:Serum Albumin / Q000172:deficiency; D013132:Spinocerebellar Degenerations / Q000235:genetics* / Q000473:pathology; D013577:Syndrome
D012709:Serum Albumin