Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting

S Klebe, G Stevanin, C Depienne - Revue neurologique, 2015‏ - Elsevier
Hereditary spastic paraplegias (HSPs) are genetically determined neurodegenerative
disorders characterized by progressive weakness and spasticity of lower limbs, and are …

Hereditary spastic paraplegia SPG4: what is known and not known about the disease

JM Solowska, PW Baas - Brain, 2015‏ - academic.oup.com
Mutations in more than 70 distinct loci and more than 50 mutated gene products have been
identified in patients with hereditary spastic paraplegias, a diverse group of neurological …

Hereditary spastic paraplegia: clinicogenetic lessons from 608 patients

R Schüle, S Wiethoff, P Martus, KN Karle… - Annals of …, 2016‏ - Wiley Online Library
Objective Hereditary spastic paraplegias (HSPs) are genetically driven disorders with the
hallmark of progressive spastic gait disturbance. To investigate the phenotypic spectrum …

Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastin

A Roll-Mecak, RD Vale - Nature, 2008‏ - nature.com
Spastin, the most common locus for mutations in hereditary spastic paraplegias, and katanin
are related microtubule-severing AAA ATPases,,,, involved in constructing neuronal,,, and …

Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics

A Errico, A Ballabio, EI Rugarli - Human molecular genetics, 2002‏ - academic.oup.com
Hereditary spastic paraplegia (HSP) is characterized by progressive weakness and
spasticity of the lower limbs, caused by the specific degeneration of the corticospinal tracts …

Hereditary spastic paraplegia

JK Fink - Current neurology and neuroscience reports, 2006‏ - Springer
The hereditary spastic paraplegias (HSPs) comprise a large group of inherited neurologic
disorders. HSP is classified according to the mode of inheritance, the HSP locus when …

Spastin couples microtubule severing to membrane traffic in completion of cytokinesis and secretion

JW Connell, C Lindon, JP Luzio, E Reid - Traffic, 2009‏ - Wiley Online Library
Mutations in the gene encoding the microtubule (MT)‐severing protein spastin are the most
common cause of hereditary spastic paraplegia, a genetic condition in which axons of the …

The hereditary spastic paraplegia gene, spastin, regulates microtubule stability to modulate synaptic structure and function

N Trotta, G Orso, MG Rossetto, A Daga, K Broadie - Current biology, 2004‏ - cell.com
Abstract Background: Hereditary Spastic Paraplegia (HSP) is a devastating neurological
disease causing spastic weakness of the lower extremities and eventual axonal …

Bioinformatically detectable group of novel regulatory genes and uses thereof

I Bentwich - US Patent 7,250,496, 2007‏ - Google Patents
US7250496B2 - Bioinformatically detectable group of novel regulatory genes and uses thereof
- Google Patents US7250496B2 - Bioinformatically detectable group of novel regulatory genes …

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