Hereditary spastic paraplegias: an update

@article{Depienne2007HereditarySP,
  title={Hereditary spastic paraplegias: an update},
  author={Christel Depienne and Giovanni Stevanin and Alexis Brice and Alexandra Durr},
  journal={Current Opinion in Neurology},
  year={2007},
  volume={20},
  pages={674–680}
}
Purpose of reviewHereditary 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… 
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192 Citations
Highly Influential Citations
23
Background Citations
87
Methods Citations
2
Results Citations
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192 Citations

Hereditary spastic paraplegia: pathology, genetics and therapeutic prospects
TLDR
Advances in knowledge of HSPs, ranging from clinical aspects to the putative pathophysiological mechanisms, are detailed and the issue of how novel pathological information can be translated into better care and therapies, given that the latter are currently based largely on symptom relief is addressed.
[Genetic testing in hereditary spastic paraplegia].
TLDR
Molecular testing and subsequent detailed genotype-phenotype correlations of the Hungarian patients may serve valuable new information about the disease, which later on may influence the therapeutic possibilities and decisions.
Molecular Genetics of Hereditary Spastic Paraplegias
TLDR
A new classification is now emerging taking into account clinical, genetic and pathological mechanisms in HSP, which is among the most highly heterogeneous neurodegenerative disorders.
Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum
Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting.
Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks
TLDR
The aim of this review article is to provide an extensive overview regarding the main clinical and genetic features of the classical and recently described subtypes of hereditary spastic paraplegia (HSP).
Genetic mutation analysis of hereditary spastic paraplegia
TLDR
The data confirm the genetic heterogeneity of hereditary spastic paraplegias, and SPG4/SPAST were the most frequent forms, and the pathogenicity of the novel mutations is worth to be further investigated.
Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10
TLDR
The largest series of SPG10 families described so far is reported, which extends both the mutational spectrum of the disease and its phenotype, which now includes complicated forms of HSP.
Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations
TLDR
Dutch SPAST mutation carriers show a broad mutation spectrum, with 27 novel mutations in the present series, including S44L, the first exon 4 mutation, and a possible autosomal recessive mode of inheritance.
Hereditary spastic paraplegia: identification of an SPG3A gene mutation in a Chinese family.
TLDR
Using DNA mutation analysis, the authors identified an SPG3A missense mutation (p.R239C) in a Chinese family where three members have early-onset pure spastic paraplegia, the first report of a gene mutation in hereditary spastics paraplegias in the authors' locality.
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