Neurophysiological evidence of corticospinal tract abnormality in patients with Parkin mutations.
Mutations in the parkin gene (PARK2) are the most frequent cause of autosomal recessive early-onset Parkinson disease. We performed a transcranial magnetic stimulation study in four patients with parkin mutations. Two patients had a prolonged central motor conduction time at both upper and lower limb, one only at the arm and one only at the leg. The MEP threshold was increased in one patient for the arm and in two for the leg. The MEP amplitude was reduced in one and central silent period shortened in two. The findings demonstrate corticospinal dysfunction in these patients and suggest that the extent of central nervous system involvement in parkin disease may be wider that hitherto supposed.
De Rosa
Anna
A
Dipartimento di Scienze Neurologiche, Università degli Studi di Napoli Federico II, Via Pansini 5, 80131 Napoli, Italy.
Volpe
Giampiero
G
Marcantonio
Lucia
L
Santoro
Lucio
L
Brice
Alexis
A
Filla
Alessandro
A
Perretti
Anna
A
De Michele
Giuseppe
G
D000293:Adolescent; D000328:Adult; D004252:DNA Mutational Analysis / Q000379:methods; D019054:Evoked Potentials, Motor / Q000235:genetics / Q000528:radiation effects; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009483:Neuropsychological Tests; D010300:Parkinson Disease / Q000235:genetics / Q000473:pathology*; D011712:Pyramidal Tracts / Q000002:abnormalities* / Q000503:physiopathology; D050781:Transcranial Magnetic Stimulation / Q000379:methods; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
D044767:Ubiquitin-Protein Ligases; C111567:parkin protein