Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region

Yorck Hellenbroich; S. Bubel; H. Pawlack; S. Opitz; P. Vieregge; E. Schwinger; C. Zühlke

doi:10.1007/s00415-003-1052-x

Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region

Yorck Hellenbroich^*, S. Bubel, H. Pawlack, S. Opitz, P. Vieregge, E. Schwinger, C. Zühlke

^*Korrespondierende/r Autor/-in für diese Arbeit

Institut für Humangenetik

52 Zitate (Scopus)

Abstract

Spinocerebellar ataxia type 4 (SCA4) is an autosomal dominant disorder mapped to chromosome 16q22.1 in a large Utah kindred. The clinical phenotype is characterized by cerebellar ataxia with sensory neuropathy. We describe a five-generation family from northern Germany with similar clinical findings linked to the same locus. Haplotype analyses refined the gene locus to a 3.69 cM interval between D16S3019 and D16S512. Analysis of nine CAG/CTG tracts in this region revealed no evidence for a repeat expansion.

Originalsprache	Englisch
Zeitschrift	Journal of Neurology
Jahrgang	250
Ausgabenummer	6
Seiten (von - bis)	668-671
Seitenumfang	4
ISSN	0340-5354
DOIs	https://doi.org/10.1007/s00415-003-1052-x
Publikationsstatus	Veröffentlicht - 01.06.2003

UN SDGs

Dieser Output leistet einen Beitrag zu folgendem(n) Ziel(en) für nachhaltige Entwicklung

SDG 3 – Gesundheit und Wohlergehen

Strategische Forschungsbereiche und Zentren

Querschnittsbereich: Medizinische Genetik

Dokumente

10.1007/s00415-003-1052-x

Weitere Links

Link to publication in Scopus

Zitieren

@article{12c24fe8ca37419ca6d22af369862f8c,

title = "Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region",

abstract = "Spinocerebellar ataxia type 4 (SCA4) is an autosomal dominant disorder mapped to chromosome 16q22.1 in a large Utah kindred. The clinical phenotype is characterized by cerebellar ataxia with sensory neuropathy. We describe a five-generation family from northern Germany with similar clinical findings linked to the same locus. Haplotype analyses refined the gene locus to a 3.69 cM interval between D16S3019 and D16S512. Analysis of nine CAG/CTG tracts in this region revealed no evidence for a repeat expansion.",

author = "Yorck Hellenbroich and S. Bubel and H. Pawlack and S. Opitz and P. Vieregge and E. Schwinger and C. Z{\"u}hlke",

year = "2003",

month = jun,

day = "1",

doi = "10.1007/s00415-003-1052-x",

language = "English",

volume = "250",

pages = "668--671",

journal = "Journal of Neurology",

issn = "0340-5354",

publisher = "Springer Science and Business Media Deutschland GmbH",

number = "6",

}

TY - JOUR

T1 - Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region

AU - Hellenbroich, Yorck

AU - Bubel, S.

AU - Pawlack, H.

AU - Opitz, S.

AU - Vieregge, P.

AU - Schwinger, E.

AU - Zühlke, C.

PY - 2003/6/1

Y1 - 2003/6/1

N2 - Spinocerebellar ataxia type 4 (SCA4) is an autosomal dominant disorder mapped to chromosome 16q22.1 in a large Utah kindred. The clinical phenotype is characterized by cerebellar ataxia with sensory neuropathy. We describe a five-generation family from northern Germany with similar clinical findings linked to the same locus. Haplotype analyses refined the gene locus to a 3.69 cM interval between D16S3019 and D16S512. Analysis of nine CAG/CTG tracts in this region revealed no evidence for a repeat expansion.

AB - Spinocerebellar ataxia type 4 (SCA4) is an autosomal dominant disorder mapped to chromosome 16q22.1 in a large Utah kindred. The clinical phenotype is characterized by cerebellar ataxia with sensory neuropathy. We describe a five-generation family from northern Germany with similar clinical findings linked to the same locus. Haplotype analyses refined the gene locus to a 3.69 cM interval between D16S3019 and D16S512. Analysis of nine CAG/CTG tracts in this region revealed no evidence for a repeat expansion.

UR - https://www.scopus.com/pages/publications/0038119658

U2 - 10.1007/s00415-003-1052-x

DO - 10.1007/s00415-003-1052-x

M3 - Journal articles

C2 - 12796826

AN - SCOPUS:0038119658

SN - 0340-5354

VL - 250

SP - 668

EP - 671

JO - Journal of Neurology

JF - Journal of Neurology

IS - 6

ER -

Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region

Abstract

UN SDGs

Strategische Forschungsbereiche und Zentren

Dokumente

Weitere Links

Fingerprint

Zitieren