Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutation

Sara Bech; Thor Petersen; Anne Nørremølle; Albert Gjedde; Lise Ehlers; Hans Eiberg; Lena E Hjermind; Lis Hasholt; Erik Lundorf; Jørgen E Nielsen

doi:10.1016/j.parkreldis.2009.06.006

Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutation

Sara Bech, Thor Petersen, Anne Nørremølle, Albert Gjedde, Lise Ehlers, Hans Eiberg, Lena E Hjermind, Lis Hasholt, Erik Lundorf, Jørgen E Nielsen

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

18 Citationer (Scopus)

Abstract

Udgivelsesdato: 2010-Jan

Originalsprog	Engelsk
Tidsskrift	Parkinsonism & Related Disorders
Vol/bind	16
Udgave nummer	1
Sider (fra-til)	12-5
Antal sider	3
ISSN	1353-8020
DOI	https://doi.org/10.1016/j.parkreldis.2009.06.006
Status	Udgivet - 2010

Bibliografisk note

Keywords: Adult; Ataxia; Cognition Disorders; Electroencephalography; Family Health; Female; Fluorodeoxyglucose F18; Humans; Huntington Disease; Magnetic Resonance Imaging; Male; Positron-Emission Tomography; TATA-Box Binding Protein; Temporal Lobe; Trinucleotide Repeat Expansion

Adgang til dokumentet

10.1016/j.parkreldis.2009.06.006

Citationsformater

Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutation. / Bech, Sara; Petersen, Thor; Nørremølle, Anne ; Gjedde, Albert; Ehlers, Lise; Eiberg, Hans; Hjermind, Lena E; Hasholt, Lis; Lundorf, Erik; Nielsen, Jørgen E.

I: Parkinsonism & Related Disorders, Bind 16, Nr. 1, 2010, s. 12-5.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

@article{c4d8725089cb11df928f000ea68e967b,

title = "Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutation",

abstract = "The autosomal dominant spinocerebellar ataxias, commonly referred to as SCAs, are clinically and genetically heterogeneous neurodegenerative disorders. Twenty-eight genetic subtypes have been identified, of which 7 are caused by expansion of a CAG trinucleotide repeat that encodes a polyglutamine tract in the respective proteins. SCA17 is caused by a CAG/CAA repeat expansion in the TATA box-binding protein-gene (TBP). In some cases the clinical phenotype of SCA17 overlaps that of Huntington's disease (HD), hence the use of the term Huntington's disease-like. We screened 89 patients with a Huntington's disease-like phenotype without the HD-gene mutation and 178 patients with genetically unclassified cerebellar ataxia for the mutation in TBP. A 33-year old woman presenting with an HD like phenotype with a de novo 54 CAG/CAA repeat expansion was identified. Her normal allele included 38 repeats. The patient's mother and father both carried normal range repeats, 38/38 and 33/39 respectively. Analysis of the repeat structures revealed that the expansion had occurred upon expansion of the longer paternal allele. We conclude that, however rare, SCA17 must be considered as a cause of Huntington's disease-like phenotypes and ataxia syndromes, also in isolated cases.",

author = "Sara Bech and Thor Petersen and Anne N{\o}rrem{\o}lle and Albert Gjedde and Lise Ehlers and Hans Eiberg and Hjermind, {Lena E} and Lis Hasholt and Erik Lundorf and Nielsen, {J{\o}rgen E}",

note = "Keywords: Adult; Ataxia; Cognition Disorders; Electroencephalography; Family Health; Female; Fluorodeoxyglucose F18; Humans; Huntington Disease; Magnetic Resonance Imaging; Male; Positron-Emission Tomography; TATA-Box Binding Protein; Temporal Lobe; Trinucleotide Repeat Expansion",

year = "2010",

doi = "10.1016/j.parkreldis.2009.06.006",

language = "English",

volume = "16",

pages = "12--5",

journal = "Parkinsonism & Related Disorders",

issn = "1353-8020",

publisher = "Elsevier",

number = "1",

}

TY - JOUR

T1 - Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutation

AU - Bech, Sara

AU - Petersen, Thor

AU - Nørremølle, Anne

AU - Gjedde, Albert

AU - Ehlers, Lise

AU - Eiberg, Hans

AU - Hjermind, Lena E

AU - Hasholt, Lis

AU - Lundorf, Erik

AU - Nielsen, Jørgen E

N1 - Keywords: Adult; Ataxia; Cognition Disorders; Electroencephalography; Family Health; Female; Fluorodeoxyglucose F18; Humans; Huntington Disease; Magnetic Resonance Imaging; Male; Positron-Emission Tomography; TATA-Box Binding Protein; Temporal Lobe; Trinucleotide Repeat Expansion

PY - 2010

Y1 - 2010

N2 - The autosomal dominant spinocerebellar ataxias, commonly referred to as SCAs, are clinically and genetically heterogeneous neurodegenerative disorders. Twenty-eight genetic subtypes have been identified, of which 7 are caused by expansion of a CAG trinucleotide repeat that encodes a polyglutamine tract in the respective proteins. SCA17 is caused by a CAG/CAA repeat expansion in the TATA box-binding protein-gene (TBP). In some cases the clinical phenotype of SCA17 overlaps that of Huntington's disease (HD), hence the use of the term Huntington's disease-like. We screened 89 patients with a Huntington's disease-like phenotype without the HD-gene mutation and 178 patients with genetically unclassified cerebellar ataxia for the mutation in TBP. A 33-year old woman presenting with an HD like phenotype with a de novo 54 CAG/CAA repeat expansion was identified. Her normal allele included 38 repeats. The patient's mother and father both carried normal range repeats, 38/38 and 33/39 respectively. Analysis of the repeat structures revealed that the expansion had occurred upon expansion of the longer paternal allele. We conclude that, however rare, SCA17 must be considered as a cause of Huntington's disease-like phenotypes and ataxia syndromes, also in isolated cases.

AB - The autosomal dominant spinocerebellar ataxias, commonly referred to as SCAs, are clinically and genetically heterogeneous neurodegenerative disorders. Twenty-eight genetic subtypes have been identified, of which 7 are caused by expansion of a CAG trinucleotide repeat that encodes a polyglutamine tract in the respective proteins. SCA17 is caused by a CAG/CAA repeat expansion in the TATA box-binding protein-gene (TBP). In some cases the clinical phenotype of SCA17 overlaps that of Huntington's disease (HD), hence the use of the term Huntington's disease-like. We screened 89 patients with a Huntington's disease-like phenotype without the HD-gene mutation and 178 patients with genetically unclassified cerebellar ataxia for the mutation in TBP. A 33-year old woman presenting with an HD like phenotype with a de novo 54 CAG/CAA repeat expansion was identified. Her normal allele included 38 repeats. The patient's mother and father both carried normal range repeats, 38/38 and 33/39 respectively. Analysis of the repeat structures revealed that the expansion had occurred upon expansion of the longer paternal allele. We conclude that, however rare, SCA17 must be considered as a cause of Huntington's disease-like phenotypes and ataxia syndromes, also in isolated cases.

U2 - 10.1016/j.parkreldis.2009.06.006

DO - 10.1016/j.parkreldis.2009.06.006

M3 - Journal article

C2 - 19595623

VL - 16

SP - 12

EP - 15

JO - Parkinsonism & Related Disorders

JF - Parkinsonism & Related Disorders

SN - 1353-8020

IS - 1

ER -