Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia | Zendy

Rebecca Schüle | Zendy; Nina Schlipf | Zendy; Matthis Synofzik | Zendy; Stephan Klebe | Zendy; Sven Klimpe | Zendy; Ute Hehr | Zendy; Beate Winner | Zendy; Tobias Lindig | Zendy; A Dotzer | Zendy; Olaf Rieß | Zendy; Jürgen Winkler | Zendy; Lüdger Schöls | Zendy; Peter Bauer | Zendy

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Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia

Author(s) -

Rebecca Schüle,

Nina Schlipf,

Matthis Synofzik,

Stephan Klebe,

Sven Klimpe,

Ute Hehr,

Beate Winner,

Tobias Lindig,

A Dotzer,

Olaf Rieß,

Jürgen Winkler,

Lüdger Schöls,

Peter Bauer

Publication year - 2009

Publication title -

journal of neurology neurosurgery and psychiatry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.391

H-Index - 206

eISSN - 1468-330X

pISSN - 0022-3050

DOI - 10.1136/jnnp.2008.167528

Subject(s) - log normal distribution , population , per capita , statistics , demography , mathematics , sociology

Hereditary spastic paraplegias (HSP) are clinically and genetically highly heterogeneous. Recently, two novel genes, SPG11 (spatacsin) and SPG15 (spastizin), associated with autosomal recessive HSP, were identified. Clinically, both are characterised by complicated HSP and a rather similar phenotype consisting of early onset spastic paraplegia, cognitive deficits, thin corpus callosum (TCC), peripheral neuropathy and mild cerebellar ataxia.

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