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

Chiara Criscuolo; Giampiero Volpe; Anna De Rosa; Andrea Varrone; Roberta Marongiu; Pietro Mancini; Elena Salvatore; Bruno Dallapiccola; Alessandro Filla; Enza Maria Valente; Giuseppe De Michele

doi:10.1002/mds.20933

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

Chiara Criscuolo, Giampiero Volpe, Anna De Rosa, Andrea Varrone, Roberta Marongiu, Pietro Mancini, Elena Salvatore, Bruno Dallapiccola, Alessandro Filla, Enza Maria Valente, Giuseppe De Michele

Research output: Contribution to journal › Article › peer-review

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 response 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.

Original language	English
Pages (from-to)	1265-1267
Number of pages	3
Journal	Movement Disorders
Volume	21
Issue number	8
DOIs	https://doi.org/10.1002/mds.20933
Publication status	Published - Aug 2006

Keywords

Early onset
Familial Parkinsonism
PARK6
PINK1

ASJC Scopus subject areas

Clinical Neurology
Neuroscience(all)

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10.1002/mds.20933

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PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of Parkinsonism. / Criscuolo, Chiara; Volpe, Giampiero; De Rosa, Anna; Varrone, Andrea; Marongiu, Roberta; Mancini, Pietro; Salvatore, Elena; Dallapiccola, Bruno; Filla, Alessandro; Valente, Enza Maria; De Michele, Giuseppe.

In: Movement Disorders, Vol. 21, No. 8, 08.2006, p. 1265-1267.

Research output: Contribution to journal › Article › peer-review

Criscuolo, Chiara ; Volpe, Giampiero ; De Rosa, Anna ; Varrone, Andrea ; Marongiu, Roberta ; Mancini, Pietro ; Salvatore, Elena ; Dallapiccola, Bruno ; Filla, Alessandro ; Valente, Enza Maria ; De Michele, Giuseppe. / PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of Parkinsonism. In: Movement Disorders. 2006 ; Vol. 21, No. 8. pp. 1265-1267.

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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 response 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.",

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author = "Chiara Criscuolo and Giampiero Volpe and {De Rosa}, Anna and Andrea Varrone and Roberta Marongiu and Pietro Mancini and Elena Salvatore and Bruno Dallapiccola and Alessandro Filla and Valente, {Enza Maria} and {De Michele}, Giuseppe",

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AU - Marongiu, Roberta

AU - Mancini, Pietro

AU - Salvatore, Elena

AU - Dallapiccola, Bruno

AU - Filla, Alessandro

AU - Valente, Enza Maria

AU - De Michele, Giuseppe

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

Abstract

Keywords

ASJC Scopus subject areas

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