Hereditary spastic paraplegias: an update.
Current Opinion in Neurology. 2007-12-01; 20(6): 674-680
DOI: 10.1097/WCO.0b013e3282f190ba
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1. Curr Opin Neurol. 2007 Dec;20(6):674-80.
Hereditary spastic paraplegias: an update.
Depienne C(1), Stevanin G, Brice A, Durr A.
Author information:
(1)INSERM, U679, Paris, France.
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.
DOI: 10.1097/WCO.0b013e3282f190ba
PMID: 17992088 [Indexed for MEDLINE]