These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: [The genetics of movement disorders--spinocerebellar degenerations].
    Author: Tallaksen CM, Dietrichs E.
    Journal: Tidsskr Nor Laegeforen; 2004 Sep 09; 124(17):2233-5. PubMed ID: 15356686.
    Abstract:
    BACKGROUND: Hereditary movement disorders include spinocerebellar disorders, a large and heterogeneous group of syndromes with ataxia or spasticity as the prominent symptom. In spite of the vast clinical and genetic heterogeneity, patterns of pathogenesis slowly emerge and help us understand these disorders. MATERIAL AND METHODS: This review is based on personal experience and recent literature. RESULTS: More than 20 types of hereditary spastic paraparesis have been reported. Dominant SPG4 and SPG3 with mutations in the spastin or the atlastin gene have been identified in many countries. The most prevalent type of recessive ataxia in Europe, Friedreich's ataxia, has become a model of integrated clinical-molecular-therapeutic research. More recessive ataxias (AOA1-2) have been described recently. More than 20 autosomal dominant ataxias have been reported, with 12 identified genes including the episodic ataxias, and 9 mapped. SCA7 appears to be the most frequent type in some Nordic countries. INTERPRETATION: A striking feature of many of these diseases is the involvement of very different genes for similar phenotypes. Conversely, very heterogeneous phenotypes are due to single-gene defects. Recently there has been considerable progress in the clinical description of movement disorders and the understanding of their genetic basis. Possible therapies are emerging.
    [Abstract] [Full Text] [Related] [New Search]