We analyzed the PINK1 gene in 58 patients with early-onset Parkinsonism and detected the homozygous mutation W437X in 1 patient. The clinical phenotype was characterized by early onset (22 years of age), good re- sponse to levodopa, early fluctuations and dyskinesias, and psychiatric symptoms. The mother, heterozygote for W437X mutation, was affected by Parkinson’s disease and 3 further relatives were reported affected, according to an autosomal dominant transmission.

PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism / Criscuolo, C; Volpe, G; DE ROSA, Anna; Varrone, A; Marongiu, R; Mancini, P; Salvatore, Elena; Dallapiccola, B; Filla, Alessandro; Valente, Em; DE MICHELE, Giuseppe. - In: MOVEMENT DISORDERS. - ISSN 0885-3185. - STAMPA. - 21:(2006), pp. 1265-1267.

PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism.

DE ROSA, ANNA;SALVATORE, ELENA;FILLA, ALESSANDRO;DE MICHELE, GIUSEPPE
2006

Abstract

We analyzed the PINK1 gene in 58 patients with early-onset Parkinsonism and detected the homozygous mutation W437X in 1 patient. The clinical phenotype was characterized by early onset (22 years of age), good re- sponse to levodopa, early fluctuations and dyskinesias, and psychiatric symptoms. The mother, heterozygote for W437X mutation, was affected by Parkinson’s disease and 3 further relatives were reported affected, according to an autosomal dominant transmission.
2006
PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism / Criscuolo, C; Volpe, G; DE ROSA, Anna; Varrone, A; Marongiu, R; Mancini, P; Salvatore, Elena; Dallapiccola, B; Filla, Alessandro; Valente, Em; DE MICHELE, Giuseppe. - In: MOVEMENT DISORDERS. - ISSN 0885-3185. - STAMPA. - 21:(2006), pp. 1265-1267.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/204043
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