Current opinion in neurology · 2007
Hereditary spastic paraplegias: an update.
СтатьяПоддержка исследования: вне правительства СШАОбзорНазвание и аннотация: Перевод в очереди
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Depienne Christel, Stevanin Giovanni, Brice Alexis, Durr Alexandra
Аннотация
PURPOSE OF REVIEW: Hereditary spastic paraplegias are a genetically heterogeneous group of diseases. Recent advances concerning their nosology and molecular bases have greatly improved the genetic diagnosis of these diseases, with implications for genetic counselling. The recent identification of new genes and loci, however, has blurred the distinction between hereditary spastic paraplegias and other entities, such as cerebellar ataxias or leucodystrophies. Cerebral MRI and the familial history of each patient with spastic paraplegia are the minimal clinical elements needed to orient genetic testing.
RECENT FINDINGS: For SPG4, the gene most frequently involved in hereditary spastic paraplegias, a novel mutational mechanism was described, which allows detection of an increased number of cases. In autosomal recessive forms, mutations in the recently identified SPG11 gene seem to account for a majority of the complex forms of the disease with atrophy of the corpus callosum. In addition, the SACS gene has been implicated in an increasing number of cases of various origins.
SUMMARY: Genetic testing is progressively more complex and clinical and other information concerning the phenotype is now crucial for choosing an appropriate genetic testing procedure for each patient.
RECENT FINDINGS: For SPG4, the gene most frequently involved in hereditary spastic paraplegias, a novel mutational mechanism was described, which allows detection of an increased number of cases. In autosomal recessive forms, mutations in the recently identified SPG11 gene seem to account for a majority of the complex forms of the disease with atrophy of the corpus callosum. In addition, the SACS gene has been implicated in an increasing number of cases of various origins.
SUMMARY: Genetic testing is progressively more complex and clinical and other information concerning the phenotype is now crucial for choosing an appropriate genetic testing procedure for each patient.