"Hereditary spastic paraplegia". nhs.uk. 2017-10-18. Retrieved 2018-01-28. Fink JK (2003). "The Hereditary Spastic Paraplegias ... GeneReviews/NCBI/NIH/UW entry on Spastic Paraplegia 3A GeneReviews/NCBI/NIH/UW entry on Hereditary Spastic Paraplegia Overview ... HSP is also known as hereditary spastic paraparesis, familial spastic paraplegia, French settlement disease, Strumpell disease ... Genetics of hereditary spastic paraplegias. Semin Neurol 31(5):484-493 Wang YG, Shen L (2009) AAA ATPases and hereditary ...

Polianskyi has the medical condition called hereditary spastic paraplegia. The condition is also known as Strumpell disease. ... Fletcher-Janzen, Elaine (March 2018). "Hereditary Spastic Paraplegia". In Cecil R. Reynolds; Kimberly J. Vannest; Elaine ...

Hereditary spastic paraplegia. PP Liberski, C Blackstone - Neurodegeneration, 2017 Handley M, Sheridan E. RAB18 Deficiency. In ... Therapeutics trials in other forms of early onset hereditary spastic paraplegia are ongoing and include cholesterol lowering ... Warburg Micro syndrome (WARBM), also known as Spastic Paraplegia 69 (SPG69) or RAB18 Deficiency, is a rare autosomal recessive ... genetic disorder characterized by congenital cataract, hypotonia, spastic diplegia, intellectual or developmental disability, ...

Hereditary spastic paraplegias are a diverse class of hereditary degenerative spinal cord disorders characterized by a slow, ... "Hereditary spastic paraplegia". www.uniprot.org. Mick DU, Dennerlein S, Wiese H, Reinhold R, Pacheu-Grau D, Lorenzi I, et al. ( ... and hereditary spastic paraplegia. PLA2G6-associated neurodegeneration (PLAN) is a neurodegenerative disorder associated with ... "PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia". ...

Disease: Hereditary spastic paraplegia". Human Genetics. 127 (1): 112. PMID 20108387. Tamm, Riin; Saks, Kai; Pääsuke, Mati ( ...

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. Model organisms have been used in the study of UBAP1 ... April 2019). "Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia". American Journal of Human Genetics. 104 (4): ...

Type V appears to resemble Hereditary Spastic Paraplegia; however, more research is needed to conclude the relationship between ... Type V MJD and hereditary spastic paraplegia. There is no cure for Machado-Joseph Disease. However, treatments are available ... A hereditary ataxia in Portuguese emigrants to Massachusetts". Neurology. 22 (1): 49-55. doi:10.1212/wnl.22.1.49. PMID 5061839 ...

Fink, John K. (August 2003). "The hereditary spastic paraplegias: nine genes and counting". Archives of Neurology. 60 (8): 1045 ... "Hereditary Spastic Paraplegia". NORD (National Organization for Rare Disorders). Retrieved 2019-03-27. (CS1 errors: periodical ... "Hereditary Spastic Paraplegia Overview", GeneReviews®, University of Washington, Seattle, PMID 20301682, retrieved 2019-03-27 " ... "Clinical features and management of hereditary spastic paraplegia". Arquivos de Neuro-Psiquiatria. 72 (3): 219-226. doi:10.1590 ...

Mutations in ATP13A2 have also been associated with hereditary spastic paraplegia, uncomplicated early- or late-onset ... July 2016). "Genetic and phenotypic characterization of complex hereditary spastic paraplegia". Brain. 139 (Pt 7): 1904-18. doi ... Paraplegia (total or partial paralysis of the legs) Ataxia (loss of coordination of movements) Dystonia (involuntary muscle ...

A mutation in this gene has been reported to be associated with Hereditary spastic paraplegia, however the Pathogenicity of the ... Martignoni M, Riano E, Rugarli EI (July 2008). "The role of ZFYVE27/protrudin in hereditary spastic paraplegia". American ... is mutated in hereditary spastic paraplegia". American Journal of Human Genetics. 79 (2): 351-7. doi:10.1086/504927. PMC ...

Lu J, Rashid F, Byrne PC (2006). "The hereditary spastic paraplegia protein spartin localises to mitochondria". J. Neurochem. ... 2003). "The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia". ... an hereditary spastic paraplegia". Nature Genetics. 31 (4): 347-348. doi:10.1038/ng937. PMID 12134148. S2CID 23051225. v t e ( ... an hereditary spastic paraplegia". Nat Genet. 31 (4): 347-8. doi:10.1038/ng937. PMID 12134148. S2CID 23051225. "Entrez Gene: ...

... is a rare type of hereditary spastic paraplegia characterized by muscle tone and bladder anomalies ... "Genetic Testing - familial spastic paraplegia type 6 (Spastic paraplegia type 6 -SPG6-) - Gen NIPA1 . - IVAMI". www.ivami.com. ... "Spastic paraplegia 6". 16 June 2022. "Spastic paraplegia 6 - About the Disease - Genetic and Rare Diseases Information Center ... "A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia". Neurogenetics. 6 (2): ...

"Progressive hereditary spastic paraplegia caused by a homozygous KY mutation". European Journal of Human Genetics. 25 (8): 966- ... Progressive hereditary spastic paraplegia caused by KY mutation A syndrome of hypotonia and global neurodevelopmental delay ... including some of the most prevalent severe hereditary diseases in Arabs and in Jews, as well as three syndromes named after ... as well as near-eradication of two of the most common severe hereditary diseases in Sephardic Jews. Birk heads the clinical ...

2001). "Hereditary spastic paraplegia caused by mutations in the SPG4 gene". Eur. J. Hum. Genet. 8 (10): 771-6. doi:10.1038/sj. ... Mutations associated with this gene cause the most frequent form of autosomal dominant spastic paraplegia 4. Spastic paraplegia ... 2002). "Spastin gene mutation in Japanese with hereditary spastic paraplegia". J. Med. Genet. 39 (8): 46e-46. doi:10.1136/jmg. ... Roll-Mecak A, Vale RD (2008). "Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastin". ...

1996). "Hereditary spastic paraplegia linked to chromosome 15q: Analysis of candidate genes". Neurology. 46 (3): 835-6. doi: ... 2005). "A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia". Neurogenetics ... 2003). "NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6)". Am. J. Hum. Genet. 73 (4): 967-71 ... the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter". J. Biol. Chem. ...

Mutations in KIF5A have been reported to cause hereditary spastic paraplegia type 10 (SPG1). Mutations in KIF5A have also been ... Blair MA, Ma S, Hedera P (March 2006). "Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia". ... November 2002). "A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)". American Journal of Human ... September 2004). "Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia". Neurology. 63 (6 ...

Mutations in this gene have been associated with hereditary spastic paraplegia. Voltage-gated potassium channel Pandinotoxin ... "A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia". Annals of Neurology. 80 (4). doi: ...

June 2014). "Motor protein mutations cause a new form of hereditary spastic paraplegia". Neurology. 82 (22): 2007-16. doi: ... June 2018). "Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span". Brain & ... However, mutations in KIF1C lead to spastic paraplegia and cerebellar dysfunction in humans. These mutations usually result in ... February 2014). "KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction". Journal of ...

... mutations have been reported in families with hereditary spastic paraplegia. GRCh38: Ensembl release 89: ENSG00000132563 ... "Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia". The American Journal of Human Genetics. 94 ...

November 2001). "Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia". Nature ... "Entrez Gene: SPG3A spastic paraplegia 3A (autosomal dominant)". GeneReviews/NCBI/NIH/UW entry on Spastic Paraplegia 3A Human ... November 2001). "Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia". Nature ... June 2002). "Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia". Annals of ...

"Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic ... "SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum". Neurology. 73 (14): 1111-9. ... "Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia". Journal of Neurology, Neurosurgery, ... two proteins involved in hereditary spastic paraplegia". Molecular and Cellular Neurosciences. 47 (3): 191-202. doi:10.1016/j. ...

2007). "Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia". Am. J. Hum. Genet. 80 (1): 152- ... 1999). "Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q". Am. J. Hum. Genet. 64 (2): 563-569 ... Mutations in KIAA0196 are implicated in some forms of hereditary spastic paraplegia. GRCh38: Ensembl release 89: ... implications for the mutational mechanism in hereditary spastic paraplegia type SPG8". Orphanet Journal of Rare Diseases. 10 (1 ...

A genome-wide linkage screen has associated this locus with a type of hereditary spastic paraplegia (HSP). "Human PubMed ... "A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32". Annals of Neurology. 54 (6): 796-803. doi: ... "A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32". Annals of Neurology. 54 (6): 796-803. doi: ... "Entrez Gene: Spastic paraplegia 23 (autosomal recessive)". "SPG23 Symbol Report , HUGO Gene Nomenclature Committee". www. ...

Mutations in this gene have been associated with leukodystrophy dysmyelinating with hereditary spastic paraplegia type 35 ( ... "A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23". Neurology. 71 (4): 248-52. ... "Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)". Human Mutation. 31 (4): E1251-60. doi: ... "Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia". ...

2009). "Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations". Brain. 132 (Pt 2): 426-38. doi:10.1093/ ... 2007). "Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination". Neurogenetics. 8 (1): 39 ... Heterozygous missense mutations in this same gene cause pubertal onset hereditary lymphedema. GRCh38: Ensembl release 89: ...

... is a rare type of hereditary spastic paraplegia which is characterized by sensation anomalies of the ... Spasticity Hereditary spastic paraplegia Hereditary sensory and autonomic neuropathy RESERVED, INSERM US14-- ALL RIGHTS. " ... "REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31". Brain. 131 (4): 1078-1086 ... While autosomal dominant spastic paraplegias (ADSPG) like this one have a worldwide incidence of 1 in 100,000 people, this ...

This is the case in Friedreich's ataxia, hereditary spastic paraplegia, and Wilson's disease. These diseases are inherited in a ... Diseases caused by mutation in the mtDNA include Kearns-Sayre syndrome, MELAS syndrome and Leber's hereditary optic neuropathy ... Environmental influences may interact with hereditary predispositions and cause mitochondrial disease. For example, there may ... Leber's hereditary optic neuropathy, MERRF syndrome, and others are due to point mutations in mtDNA. It has also been reported ...

Mutations in this gene have been associated with hereditary spastic paraplegia type 23. It has also seen that DSTYK deletion ... Large intragenic deletion in DSTYK underlies autosomal-recessive complicated spastic paraparesis, SPG23. Am J Hum Genet 100(2): ...

"Interaction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15". Molecular Biology of the Cell. 24 (16 ... reason supporting the idea that it is an authentic adaptor complex is that it is associated with hereditary spastic paraplegia ...

"Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia". American Journal of ... Along with CMT, Reilly has worked on hereditary sensory and autonomic neuropathies and carpal tunnel syndrome in inherited ... Murphy, Sinéad M.; Laurá, Matilde; Reilly, Mary M. (1 January 2013). "DNA testing in hereditary neuropathies". In Said, Gérard ... Krarup, Christian (eds.). Chapter 12 - DNA testing in hereditary neuropathies. pp. 213-232. doi:10.1016/B978-0-444-52902- ...