Benign autosomal dominant syndrome of neuronal Charcot-Marie-Tooth disease, ptosis, parkinsonism, and dementia.
We present a kindred with a previously undescribed combination of neuronal Charcot-Marie-Tooth disease, ptosis, parkinsonism, and mild dementia. The propositus, a 72-year-old man, had pes cavus, peripheral neuropathy, ptosis, parkinsonism, hyperreflexia, orthostatic hypotension, central hypoventilation, and mild dementia. Peripheral electrophysiologic studies showed features of an axonal neuropathy. The electroencephalogram showed intermittent 2 to 4 Hz activity symmetrically in the hemispheres. Several family members in 3 generations had pes cavus, neuropathy, ptosis, parkinsonism, and dementia although not all of the features were consistently present. Survival past the 7th decade was common. Autopsy in 2 affected members revealed the neuropathy to be axonal in type and showed mild to moderate loss of anterior horn cells in the spinal cord and pigmentary loss with gliosis in the substantia nigra. This is a unique, benign, autosomal dominant syndrome which shows complete penetrance, variable expression, and both central and peripheral nervous system involvement.
Tandan
R
R
Department of Neurology, University of Vermont, Burlington.
Taylor
R
R
Adesina
A
A
Sharma
K
K
Fries
T
T
Pendlebury
W
W
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001763:Blepharoptosis / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D001921:Brain / Q000473:pathology; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D003704:Dementia / Q000235:genetics* / Q000473:pathology; D004594:Electrophysiology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D010302:Parkinson Disease, Secondary / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D010375:Pedigree; D010525:Peripheral Nerves / Q000473:pathology; D013116:Spinal Cord / Q000473:pathology; D013577:Syndrome