Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation

Human Molecular Genetics
J JohanssonM Holmberg

Abstract

Spinocerebellar ataxia 7 (SCA7) is a neurodegenerative disorder characterized by degeneration of the cerebellum, brainstem and retina. The gene responsible for SCA7, located on chromosome 3p, recently was cloned and shown to contain a CAG repeat in the coding region of the gene, that is expanded in SCA7 patients of French origin. We examined the SCA7 repeat region in four Swedish SCA7 families as well as in 57 healthy controls. All Swedish SCA7 patients exhibited expanded CAG repeats with a strong negative correlation between repeat size and age of onset. The repeat length in SCA7 patients ranged from 40 to >200 repeats. The largest expansion was observed in a juvenile case with an age of onset of 3 months, and represents the longest polyglutamine stretch ever reported. In patients with 59 repeats or more, visual impairment was the most common initial symptom observed, while ataxia predominates in patients with <59 repeats. Two of the Swedish SCA7 families analysed in this study were shown to be related genealogically. The other two SCA7 families could not be traced back to a common ancestor. All four families shared the same allele on the disease chromosome at a locus closely linked to SCA7, suggesting the possibility of a fou...Continue Reading

Citations

Dec 18, 2007·Journal of Neurology·Georgios TsivgoulisKonstantinos Spengos
Sep 29, 1999·Journal of the Neurological Sciences·J MartinC Van Broeckhoven
Sep 27, 2003·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Patrick J Morrison
May 3, 2002·The Journal of Molecular Diagnostics : JMD·Michael O DorschnerKaren Stephens
Nov 24, 1999·Clinical Genetics·A NardacchioneM De Marchi
Mar 23, 2013·Brain : a Journal of Neurology·Alice ChortAnnie Sittler
Sep 16, 1998·Human Molecular Genetics·G StevaninA Brice
Oct 18, 2011·Human Molecular Genetics·Yi Chun ChenSharon Y R Dent
Sep 29, 2001·Clinical Neuropharmacology·S Gilman
Jun 3, 2009·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Keisuke SuzukiGen Sobue
Sep 21, 2004·Journal of Neurology, Neurosurgery, and Psychiatry·O Y BangK Huh
Nov 10, 2001·Annual Review of Genomics and Human Genetics·C J Cummings, H Y Zoghbi
Jun 9, 2000·Annual Review of Neuroscience·H Y Zoghbi, H T Orr
Dec 12, 2012·PloS One·Constantin YanicostasNadia Soussi-Yanicostas
Apr 25, 2014·PloS One·Pavitra S RamachandranBeverly L Davidson
Jun 17, 2014·Molecular Therapy : the Journal of the American Society of Gene Therapy·Pavitra S RamachandranBeverly L Davidson
Jan 27, 2007·Developmental Medicine and Child Neurology·Andrea WhitneyJean-Pierre Lin
Aug 9, 2013·Movement Disorders : Official Journal of the Movement Disorder Society·Carlos R Hernandez-CastilloJuan Fernandez-Ruiz
Jul 22, 2008·Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia·E Storey
Nov 16, 2002·Neurologic Clinics·Alberto L Rosa, Tetsuo Ashizawa
Apr 6, 2016·Annals of African Medicine·Nura Hamidu AlkaliShyngle I Oyakhire
May 20, 2016·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Wioletta KrysaJacek Zaremba
Jun 18, 2016·Behavioural Neurology·Marina de TommasoMassimiliano Valeriani
Jun 12, 2008·Arquivos de neuro-psiquiatria·Salomão da Cunha LinharesWilson Marques
Jan 17, 2015·Neurología : publicación oficial de la Sociedad Española de Neurología·M AriasM J Sobrido
Jul 13, 2002·American Journal of Medical Genetics·Rong MaoKaren Snow
Nov 14, 2015·The Cochrane Database of Systematic Reviews·Adam P VogelEllika Schalling
Sep 7, 2004·Annals of Neurology·Olaf AnsorgeFrancesco Scaravilli
Aug 19, 2009·Internal Medicine·Hirofumi InabaHidenao Sasaki
Oct 23, 2003·European Journal of Human Genetics : EJHG·A MichalikC Van Broeckhoven
Jan 28, 2009·Ophthalmic Genetics·Therése HugossonSten Andréasson

❮ Previous
Next ❯

Related Concepts

Related Feeds

Ataxias (MDS)

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

Ataxia

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

Ataxias

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on different types of ataxias here.