関: spastic palsy、spastic paralysis

WordNet

suffering from spastic paralysis; "a spastic child"
a person suffering from spastic paralysis
relating to or characterized by spasm; "a spastic colon"; "spastic paralysis is a spastic form of cerebral palsy"

PrepTutorEJDIC

けいれん性麻痺患者

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1. 遺伝性痙性対麻痺 hereditary spastic paraplegia
2. ペリツェウス・メルツバッハー病 pelizaeus merzbacher disease
3. 脳性麻痺のマネージメントおよび予後 management and prognosis of cerebral palsy
4. 成人における嚥下障害の概要 overview of dysphagia in adults
5. 脳性麻痺の臨床的特徴および分類 clinical features and classification of cerebral palsy

English Journal

Novel FUS Deletion in a Patient With Juvenile Amyotrophic Lateral Sclerosis.

Belzil VV, Langlais JS, Daoud H, Dion PA, Brais B, Rouleau GA.SourceDion, Brais, and Rouleau), and Notre-Dame Hospital (Dr Langlais), Centre hospitalier de l'Université de Montréal Research Center, and Departments of Pathology and Cellular Biology (Dr Dion) and Medicine (Dr Rouleau), Research Center, Centre hospitalier universitaire Sainte-Justine (Dr Rouleau), Montreal, Quebec, Canada.
Archives of neurology.Arch Neurol.2012 Jan 16. [Epub ahead of print]
BACKGROUND: Juvenile amyotrophic lateral sclerosis (JALS) refers to a form of amyotrophic lateral sclerosis (ALS) in which a progressive upper and lower motor neuron degeneration begins before 25 years of age. It is generally associated with slow disease progression. During the past decade, a number
PMID 22248478

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12.

Montenegro G, Rebelo AP, Connell J, Allison R, Babalini C, D'Aloia M, Montieri P, Schüle R, Ishiura H, Price J, Strickland A, Gonzalez MA, Baumbach-Reardon L, Deconinck T, Huang J, Bernardi G, Vance JM, Rogers MT, Tsuji S, De Jonghe P, Pericak-Vance MA, Schöls L, Orlacchio A, Reid E, Züchner S.AbstractHereditary spastic paraplegias (HSPs) are a group of genetically heterogeneous neurodegenerative conditions. They are characterized by progressive spastic paralysis of the legs as a result of selective, length-dependent degeneration of the axons of the corticospinal tract. Mutations in 3 genes encoding proteins that work together to shape the ER into sheets and tubules - receptor accessory protein 1 (REEP1), atlastin-1 (ATL1), and spastin (SPAST) - have been found to underlie many cases of HSP in Northern Europe and North America. Applying Sanger and exome sequencing, we have now identified 3 mutations in reticulon 2 (RTN2), which encodes a member of the reticulon family of prototypic ER-shaping proteins, in families with spastic paraplegia 12 (SPG12). These autosomal dominant mutations included a complete deletion of RTN2 and a frameshift mutation predicted to produce a highly truncated protein. Wild-type reticulon 2, but not the truncated protein potentially encoded by the frameshift allele, localized to the ER. RTN2 interacted with spastin, and this interaction required a hydrophobic region in spastin that is involved in ER localization and that is predicted to form a curvature-inducing/sensing hairpin loop domain. Our results directly implicate a reticulon protein in axonopathy, show that this protein participates in a network of interactions among HSP proteins involved in ER shaping, and further support the hypothesis that abnormal ER morphogenesis is a pathogenic mechanism in HSP.
The Journal of clinical investigation.J Clin Invest.2012 Jan 9. pii: 60560. doi: 10.1172/JCI60560. [Epub ahead of print]
Hereditary spastic paraplegias (HSPs) are a group of genetically heterogeneous neurodegenerative conditions. They are characterized by progressive spastic paralysis of the legs as a result of selective, length-dependent degeneration of the axons of the corticospinal tract. Mutations in 3 genes encod
PMID 22232211