A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis

Yifat Zivony-Elboum; Wendy Westbroek; Nehama Kfir; David Savitzki; Yishay Shoval; Assnat Bloom; Raya Rod; Morad Khayat; Bella Gross; Walid Samri; Hector Cohen; Vadim Sonkin; Tatiana Freidman; Dan Geiger; Aviva Fattal-Valevski; Yair Anikster; Aoife M Waters; Robert Kleta; Tzipora C Falik-Zaccai

doi:10.1136/jmedgenet-2012-100742

A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis

Journal of Medical Genetics ◽

10.1136/jmedgenet-2012-100742 ◽

2012 ◽

Vol 49 (7) ◽

pp. 462-472 ◽

Cited By ~ 36

Author(s):

Yifat Zivony-Elboum ◽

Wendy Westbroek ◽

Nehama Kfir ◽

David Savitzki ◽

Yishay Shoval ◽

...

Keyword(s):

Autosomal Recessive ◽

Founder Mutation ◽

Spastic Paraparesis ◽

Hereditary Spastic Paraparesis

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Faculty Opinions recommendation of A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.717953305.793458905 ◽

2012 ◽

Author(s):

Sue Malcolm ◽

Sayeda Abu-Amero

Keyword(s):

Autosomal Recessive ◽

Founder Mutation ◽

Spastic Paraparesis ◽

Hereditary Spastic Paraparesis

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Autosomal recessive hereditary spastic paraparesis with thin corpus callosum; report of two sisters

Journal of Clinical Neuroscience ◽

10.1016/s0967-5868(03)00157-7 ◽

2004 ◽

Vol 11 (4) ◽

pp. 427-430 ◽

Cited By ~ 4

Author(s):

Steve Vucic ◽

Tanya Lye ◽

Graham Dunn ◽

Alastair Corbett

Keyword(s):

Corpus Callosum ◽

Autosomal Recessive ◽

Spastic Paraparesis ◽

Thin Corpus Callosum ◽

Hereditary Spastic Paraparesis

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Case series of autosomal recessive hereditary spastic paraparesis with novel mutation in SPG 7 gene

Neurosciences ◽

10.17712/nsj.2017.4.20170253 ◽

2017 ◽

Vol 22 (4) ◽

pp. 303-307 ◽

Cited By ~ 2

Author(s):

Shakya Bhattacharjee ◽

Nicholas Beauchamp ◽

Brian Murray ◽

Timothy Lynch

Keyword(s):

Autosomal Recessive ◽

Novel Mutation ◽

Spastic Paraparesis ◽

Case Series ◽

Hereditary Spastic Paraparesis

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Thin corpus callosum as a diagnostic marker for hereditary spastic paraparesis due to mutations in the SPG11 gene: a case report

European Journal of Medical Case Reports ◽

10.24911/ejmcr/1/29 ◽

2017 ◽

pp. 122-125

Author(s):

Archana Murugan ◽

Andrew Mallick ◽

Laraine Dibble ◽

Mohamed Babiker

Keyword(s):

Case Report ◽

Corpus Callosum ◽

Diagnostic Marker ◽

Spastic Paraparesis ◽

Thin Corpus Callosum ◽

Hereditary Spastic Paraparesis

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Faculty Opinions recommendation of Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718506474.793543194 ◽

2018 ◽

Author(s):

Cristina Has

Keyword(s):

Epidermolysis Bullosa ◽

Autosomal Recessive ◽

Founder Mutation ◽

Epidermolysis Bullosa Simplex

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Hereditary spastic paraparesis and psychosis

European Journal of Neurology ◽

10.1111/j.1468-1331.2006.01379.x ◽

2006 ◽

Vol 13 (8) ◽

pp. 874-879 ◽

Cited By ~ 7

Author(s):

P. McMonagle ◽

M. Hutchinson ◽

B. Lawlor

Keyword(s):

Spastic Paraparesis ◽

Hereditary Spastic Paraparesis

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Hereditary spastic paraparesis: a review of new developments

Journal of Neurology Neurosurgery & Psychiatry ◽

10.1136/jnnp.69.2.150 ◽

2000 ◽

Vol 69 (2) ◽

pp. 150-160 ◽

Cited By ~ 150

Author(s):

C. McDermott

Keyword(s):

Spastic Paraparesis ◽

New Developments ◽

Hereditary Spastic Paraparesis

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A new double-trouble phenotype: fascioscapulohumeral muscular dystrophy ameliorates hereditary spastic paraparesis due to spastin mutation

Journal of Neurology ◽

10.1007/s00415-014-7606-2 ◽

2014 ◽

Vol 262 (2) ◽

pp. 476-478 ◽

Cited By ~ 4

Author(s):

Marina Scarlato ◽

Arturo Nuara ◽

Simonetta Gerevini ◽

Sara Benedetti ◽

Paolo Rossi ◽

...

Keyword(s):

Muscular Dystrophy ◽

Spastic Paraparesis ◽

Hereditary Spastic Paraparesis

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Clinical signs and symptoms in a large hereditary spastic paraparesis pedigree with a novel spastin mutation

Movement Disorders ◽

10.1002/mds.20077 ◽

2004 ◽

Vol 19 (6) ◽

pp. 641-648 ◽

Cited By ~ 7

Author(s):

Anthony P. Nicholas ◽

Elizabeth O'Hearn ◽

Susan E. Holmes ◽

Dung-Tsa Chen ◽

Russell L. Margolis

Keyword(s):

Spastic Paraparesis ◽

Clinical Signs ◽

Signs And Symptoms ◽

Hereditary Spastic Paraparesis ◽

Clinical Signs And Symptoms

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Age-related cognitive decline in hereditary spastic paraparesis linked to chromosome 2p

Neurology ◽

10.1212/wnl.54.7.1510 ◽

2000 ◽

Vol 54 (7) ◽

pp. 1510-1517 ◽

Cited By ~ 31

Author(s):

P. C. Byrne ◽

P. Mc Monagle ◽

S. Webb ◽

B. Fitzgerald ◽

N. A. Parfrey ◽

...

Keyword(s):

Cognitive Decline ◽

Spastic Paraparesis ◽

Hereditary Spastic Paraparesis ◽

Age Related ◽

Age Related Cognitive Decline

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