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Results 1 - 6 of 6 for Spastic "paraplegia," autosomal dominant
  1. SPAST gene 
    ... Health Condition ADPSP FSP2 KIAA1083 SPAST_HUMAN spastic paraplegia 4 (autosomal dominant; spastin) SPG4 Tests of SPAST PubMed SPASTIN; SPAST NCBI Gene ClinVar Blackstone C. Hereditary spastic paraplegia. Handb Clin Neurol. 2018;148:633-652. doi: ...
    https://medlineplus.gov/genetics/gene/spast - Genetics
  2. WASHC5 gene 
    ... Bueno MR, Zatz M. Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 ...
    https://medlineplus.gov/genetics/gene/washc5 - Genetics
  3. ALDH18A1 gene 
    ... Condition Variants in the ALDH18A1 gene can cause autosomal dominant spastic paraplegia type 9A (SPG9A) and autosomal recessive spastic paraplegia type 9B (SPG9B). These conditions ...
    https://medlineplus.gov/genetics/gene/aldh18a1 - Genetics
  4. REEP1 gene 
    ... Schlang KJ, Arning L, Epplen JT, Stemmler S. Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31). BMC ...
    https://medlineplus.gov/genetics/gene/reep1 - Genetics
  5. OPA3 gene 
    The OPA3 gene provides instructions for making a protein whose exact function is unknown. The OPA3 protein is found in structures called mitochondria, which ...
    https://medlineplus.gov/genetics/gene/opa3 - Genetics
  6. TUBB4A gene 
    ... TUBB4A gene mutations. beta-5 dystonia 4, torsion (autosomal dominant) DYT4 TUBB4 tubulin beta-4 chain tubulin beta- ... DN, Kalaydjieva L, Tournev I, Jordanova A. Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia. Mov Disord. 2015 May;30(6):854-8. ...
    https://medlineplus.gov/genetics/gene/tubb4a - Genetics