Autosomal recessive paraparesis with amyotrophy of hands and feet and white matter lesions.
We report two siblings with a hitherto undescribed syndrome of autosomal recessive spastic paraparesis accompanied by amyotrophy of hands and feet, and mental deterioration. Laboratory tests showed signs of lower motoneuron involvement in the four limbs, more accentuated in the distal regions. Brain MR showed bilateral symmetrical white matter lesions. We discuss the nosological status of this syndrome in relation to other similar forms of "complicated" spastic paraparesis.
Malandrini
A
A
Institute of Neurological Sciences, University of Siena, Italy.
Scarpini
C
C
Villanova
M
M
Sicurelli
F
F
Parrotta
E
E
DeFalco
D
D
Guazzi
G C
GC
D000328:Adult; D001921:Brain / Q000473:pathology*; D005260:Female; D005528:Foot / Q000503:physiopathology*; D006225:Hand / Q000503:physiopathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009128:Muscle Spasticity / Q000503:physiopathology; D009431:Neural Conduction / Q000502:physiology; D010291:Paresis / Q000473:pathology* / Q000503:physiopathology