PARK6 is a common cause of familial parkinsonism

Em Valente; F Brancati; V Caputo; Ea Graham; Mb Davis; A Ferraris; Mm Breteler; T Gasser; V Bonifati; Anna Rita Bentivoglio; G De Michele; A Dürr; P Cortelli; A Filla; G Meco; Ba Ooastra; A Brice; Alberto Albanese; B Dallapiccola; Nw Wood

doi:10.1007/s100720200097

PARK6 is a common cause of familial parkinsonism

Em Valente, F Brancati, V Caputo, Ea Graham, Mb Davis, A Ferraris, Mm Breteler, T Gasser, V Bonifati, Anna Rita Bentivoglio, G De Michele, A Dürr, P Cortelli, A Filla, G Meco, Ba Ooastra, A Brice, Alberto Albanese, B Dallapiccola, Nw Wood

Risultato della ricerca: Contributo in rivista › Articolo in rivista

22 Citazioni (Scopus)

Abstract

The Parkin gene is responsible for about 50% of autosomal recessive juvenile parkinsonism (ARJP) and less than 20% of sporadic early onset cases. We recently mapped a novel ARJP locus (PARK6) on chromosome 1p. Linkage to PARK6 was confirmed in 8 families from 4 different European countries. These families share some clinical features with the European Parkin-positive cases, with a wide range of ages at onset and slow progression. However, features typical of ARJP, such as dystonia and sleep benefit, were not observed, making the clinical presentation of late-onset cases indistinguishable from that of idiopathic PD. The determination of the smallest region of homozygosity in one consanguineous family allowed reducing the candidate interval to 9 cM. PARK6 appears to be an important locus for ARJP in Europe.

Lingua originale	English
pagine (da-a)	117-118
Numero di pagine	2
Rivista	Neurological Sciences
Volume	23 Suppl 2
DOI	https://doi.org/10.1007/s100720200097
Stato di pubblicazione	Pubblicato - 2002

Keywords

Europe
Genetic Linkage
Genotype
Ligases
Parkinsonian Disorders
Pedigree
Ubiquitin-Protein Ligases

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10.1007/s100720200097

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Valente, E., Brancati, F., Caputo, V., Graham, E., Davis, M., Ferraris, A., Breteler, M., Gasser, T., Bonifati, V., Bentivoglio, A. R., De Michele, G., Dürr, A., Cortelli, P., Filla, A., Meco, G., Ooastra, B., Brice, A., Albanese, A., Dallapiccola, B., & Wood, N. (2002). PARK6 is a common cause of familial parkinsonism. Neurological Sciences, 23 Suppl 2, 117-118. https://doi.org/10.1007/s100720200097

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title = "PARK6 is a common cause of familial parkinsonism",

abstract = "The Parkin gene is responsible for about 50% of autosomal recessive juvenile parkinsonism (ARJP) and less than 20% of sporadic early onset cases. We recently mapped a novel ARJP locus (PARK6) on chromosome 1p. Linkage to PARK6 was confirmed in 8 families from 4 different European countries. These families share some clinical features with the European Parkin-positive cases, with a wide range of ages at onset and slow progression. However, features typical of ARJP, such as dystonia and sleep benefit, were not observed, making the clinical presentation of late-onset cases indistinguishable from that of idiopathic PD. The determination of the smallest region of homozygosity in one consanguineous family allowed reducing the candidate interval to 9 cM. PARK6 appears to be an important locus for ARJP in Europe.",

keywords = "Europe, Genetic Linkage, Genotype, Ligases, Parkinsonian Disorders, Pedigree, Ubiquitin-Protein Ligases, Europe, Genetic Linkage, Genotype, Ligases, Parkinsonian Disorders, Pedigree, Ubiquitin-Protein Ligases",

author = "Em Valente and F Brancati and V Caputo and Ea Graham and Mb Davis and A Ferraris and Mm Breteler and T Gasser and V Bonifati and Bentivoglio, {Anna Rita} and {De Michele}, G and A D{\"u}rr and P Cortelli and A Filla and G Meco and Ba Ooastra and A Brice and Alberto Albanese and B Dallapiccola and Nw Wood",

year = "2002",

doi = "10.1007/s100720200097",

language = "English",

volume = "23 Suppl 2",

pages = "117--118",

journal = "Neurological Sciences",

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Valente, E, Brancati, F, Caputo, V, Graham, E, Davis, M, Ferraris, A, Breteler, M, Gasser, T, Bonifati, V, Bentivoglio, AR, De Michele, G, Dürr, A, Cortelli, P, Filla, A, Meco, G, Ooastra, B, Brice, A, Albanese, A, Dallapiccola, B & Wood, N 2002, 'PARK6 is a common cause of familial parkinsonism', Neurological Sciences, vol. 23 Suppl 2, pagg. 117-118. https://doi.org/10.1007/s100720200097

TY - JOUR

T1 - PARK6 is a common cause of familial parkinsonism

AU - Valente, Em

AU - Brancati, F

AU - Caputo, V

AU - Graham, Ea

AU - Davis, Mb

AU - Ferraris, A

AU - Breteler, Mm

AU - Gasser, T

AU - Bonifati, V

AU - Bentivoglio, Anna Rita

AU - De Michele, G

AU - Dürr, A

AU - Cortelli, P

AU - Filla, A

AU - Meco, G

AU - Ooastra, Ba

AU - Brice, A

AU - Albanese, Alberto

AU - Dallapiccola, B

AU - Wood, Nw

PY - 2002

Y1 - 2002

N2 - The Parkin gene is responsible for about 50% of autosomal recessive juvenile parkinsonism (ARJP) and less than 20% of sporadic early onset cases. We recently mapped a novel ARJP locus (PARK6) on chromosome 1p. Linkage to PARK6 was confirmed in 8 families from 4 different European countries. These families share some clinical features with the European Parkin-positive cases, with a wide range of ages at onset and slow progression. However, features typical of ARJP, such as dystonia and sleep benefit, were not observed, making the clinical presentation of late-onset cases indistinguishable from that of idiopathic PD. The determination of the smallest region of homozygosity in one consanguineous family allowed reducing the candidate interval to 9 cM. PARK6 appears to be an important locus for ARJP in Europe.

AB - The Parkin gene is responsible for about 50% of autosomal recessive juvenile parkinsonism (ARJP) and less than 20% of sporadic early onset cases. We recently mapped a novel ARJP locus (PARK6) on chromosome 1p. Linkage to PARK6 was confirmed in 8 families from 4 different European countries. These families share some clinical features with the European Parkin-positive cases, with a wide range of ages at onset and slow progression. However, features typical of ARJP, such as dystonia and sleep benefit, were not observed, making the clinical presentation of late-onset cases indistinguishable from that of idiopathic PD. The determination of the smallest region of homozygosity in one consanguineous family allowed reducing the candidate interval to 9 cM. PARK6 appears to be an important locus for ARJP in Europe.

KW - Europe

KW - Genetic Linkage

KW - Genotype

KW - Ligases

KW - Parkinsonian Disorders

KW - Pedigree

KW - Ubiquitin-Protein Ligases

KW - Europe

KW - Genetic Linkage

KW - Genotype

KW - Ligases

KW - Parkinsonian Disorders

KW - Pedigree

KW - Ubiquitin-Protein Ligases

UR - http://hdl.handle.net/10807/31628

U2 - 10.1007/s100720200097

DO - 10.1007/s100720200097

M3 - Article

SN - 1590-1874

VL - 23 Suppl 2

SP - 117

EP - 118

JO - Neurological Sciences

JF - Neurological Sciences

ER -

PARK6 is a common cause of familial parkinsonism

Abstract

Keywords

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