Literature DB >> 12044253

Spinocerebellar degenerations: an update.

Susan L Perlman1.   

Abstract

Over the past decade, the spinocerebellar degenerations have gone from a diverse group of loosely defined phenotypes to a family of diseases with many identifiable genotypes and the promise of gene-specific treatments. The evaluation of the spinocerebellar ataxias has been simplified, and the counseling of patients and families has been enhanced by the growing number of molecular diagnostic tests now available. Management strategies remain symptomatic and focused on rehabilitation, with empirical use of antioxidants based on research in other neurogenetic diseases.

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Year:  2002        PMID: 12044253     DOI: 10.1007/s11910-002-0009-2

Source DB:  PubMed          Journal:  Curr Neurol Neurosci Rep        ISSN: 1528-4042            Impact factor:   5.081


  82 in total

1.  Cerebellar Ataxia.

Authors: 
Journal:  Curr Treat Options Neurol       Date:  2000-05       Impact factor: 3.598

2.  Limited somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions identified by small pool PCR in blood leukocytes.

Authors:  Y Hellenbroich; E Schwinger; C Zühlke
Journal:  Acta Neurol Scand       Date:  2001-03       Impact factor: 3.209

3.  The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder.

Authors:  G S Stewart; R S Maser; T Stankovic; D A Bressan; M I Kaplan; N G Jaspers; A Raams; P J Byrd; J H Petrini; A M Taylor
Journal:  Cell       Date:  1999-12-10       Impact factor: 41.582

4.  Neurologic findings in Machado-Joseph disease: relation with disease duration, subtypes, and (CAG)n.

Authors:  L B Jardim; M L Pereira; I Silveira; A Ferro; J Sequeiros; R Giugliani
Journal:  Arch Neurol       Date:  2001-06

5.  Gluten sensitivity in sporadic and hereditary cerebellar ataxia.

Authors:  K O Bushara; S U Goebel; H Shill; L G Goldfarb; M Hallett
Journal:  Ann Neurol       Date:  2001-04       Impact factor: 10.422

6.  Genetic testing for ataxia in North America.

Authors:  N T Potter; M A Nance
Journal:  Mol Diagn       Date:  2000-06

7.  Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7.

Authors:  A R La Spada; Y H Fu; B L Sopher; R T Libby; X Wang; L Y Li; D D Einum; J Huang; D E Possin; A C Smith; R A Martinez; K L Koszdin; P M Treuting; C B Ware; J B Hurley; L J Ptácek; S Chen
Journal:  Neuron       Date:  2001-09-27       Impact factor: 17.173

Review 8.  Prion diseases of humans and animals: their causes and molecular basis.

Authors:  J Collinge
Journal:  Annu Rev Neurosci       Date:  2001       Impact factor: 12.449

9.  Histone deacetylase inhibitors arrest polyglutamine-dependent neurodegeneration in Drosophila.

Authors:  J S Steffan; L Bodai; J Pallos; M Poelman; A McCampbell; B L Apostol; A Kazantsev; E Schmidt; Y Z Zhu; M Greenwald; R Kurokawa; D E Housman; G R Jackson; J L Marsh; L M Thompson
Journal:  Nature       Date:  2001-10-18       Impact factor: 49.962

10.  Abnormal respiration and sudden death during sleep in multiple system atrophy with autonomic failure.

Authors:  F E Munschauer; L Loh; R Bannister; J Newsom-Davis
Journal:  Neurology       Date:  1990-04       Impact factor: 9.910

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