KEGG DISEASE: Spastic tetraplegia and axial hypotonia, progressive

KEGG

DISEASE: Spastic tetraplegia and axial hypotonia, progressive

Entry

H03087                      Disease

Name

Spastic tetraplegia and axial hypotonia, progressive

Description

Spastic tetraplegia and axial hypotonia, progressive (STAHP), is a severe neurological syndrome characterized by infantile-onset progressive motor function loss, axial hypotonia, and spastic tetraparesis. It has been reported that loss-of-function mutations in SOD1 cause this syndrome. SOD1 is the principal cytoplasmic superoxide dismutase in humans and plays a major role in regulating redox potential.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
21 Symptoms, signs or clinical findings, not elsewhere classified
  Symptoms, signs or clinical findings of the nervous system
   Symptoms or signs involving the nervous system
    Paralytic symptoms
     MB50  Tetraplegia
      H03087  Spastic tetraplegia and axial hypotonia, progressive

Gene

SOD1 [HSA:6647] [KO:K04565]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Ezer S, Daana M, Park JH, Yanovsky-Dagan S, Nordstrom U, Basal A, Edvardson S, Saada A, Otto M, Meiner V, Marklund SL, Andersen PM, Harel T

Title

Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity.

Journal

Brain 145:872-878 (2022)
DOI:10.1093/brain/awab416

Reference

Authors

Park JH, Elpers C, Reunert J, McCormick ML, Mohr J, Biskup S, Schwartz O, Rust S, Gruneberg M, Seelhofer A, Schara U, Boltshauser E, Spitz DR, Marquardt T

Title

SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis.

Journal

Brain 142:2230-2237 (2019)
DOI:10.1093/brain/awz182

LinkDB

» Japanese version

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