Literature DB >> 7477999

Does homozygosity advance the onset of dentatorubral-pallidoluysian atrophy?

K Sato1, K Kashihara, S Okada, T Ikeuchi, S Tsuji, T Shomori, K Morimoto, T Hayabara.   

Abstract

We confirmed a homozygous type of relatively small expansion of CAG triplet repeats (57 repeats) in the short arm of chromosome 12 in a male patient with dentatorubral-pallidoluysian atrophy (DRPLA) by polymerase chain reaction. He showed early onset (age, 17 years) of DRPLA. There was good correlation of the age of onset with the number of triplet repeats. The homozygous state of the expansion of the triplet repeats was responsible for the early onset and severity of his DRPLA.

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Year:  1995        PMID： 7477999     DOI： 10.1212/wnl.45.10.1934

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  8 in total

1.  Transgenic mice expressing mutated full-length HD cDNA: a paradigm for locomotor changes and selective neuronal loss in Huntington's disease.

Authors:  P H Reddy; V Charles; M Williams; G Miller; W O Whetsell; D A Tagle
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  1999-06-29       Impact factor: 6.237

Review 2.  The genetic defect causing Huntington's disease: repeated in other contexts?

Authors:  J F Gusella; F Persichetti; M E MacDonald
Journal:  Mol Med       Date:  1997-04       Impact factor: 6.354

3.  A molecular investigation of true dominance in Huntington's disease.

Authors:  Y Narain; A Wyttenbach; J Rankin; R A Furlong; D C Rubinsztein
Journal:  J Med Genet       Date:  1999-10       Impact factor: 6.318

Review 4.  Huntington's Disease: Relationship Between Phenotype and Genotype.

Authors:  Yi-Min Sun; Yan-Bin Zhang; Zhi-Ying Wu
Journal:  Mol Neurobiol       Date:  2016-01-07       Impact factor: 5.590

5.  Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4).

Authors:  Giovanni Stevanin; Alexis Brice
Journal:  Cerebellum       Date:  2008       Impact factor: 3.847

Review 6.  Creutzfeldt-Jakob disease associated with a T188K homozygous mutation in the prion protein gene: a case report and review of the literature.

Authors:  Yuheng Shan; Jiatang Zhang; Yuying Cen; Xiaojiao Xu; Ruishu Tan; Jiahua Zhao; Shengyuan Yu
Journal:  Prion       Date:  2022-12       Impact factor: 3.931

Review 7.  Progressive myoclonic epilepsy.

Authors:  Mary L Zupanc; Benjamin Legros
Journal:  Cerebellum       Date:  2004       Impact factor: 3.648

Review 8.  An update on Spino-cerebellar ataxias.

Authors:  Banashree Mondal; Pritikanta Paul; Madhuparna Paul; Hrishikesh Kumar
Journal:  Ann Indian Acad Neurol       Date:  2013-07       Impact factor: 1.383
  8 in total

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