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Spastic Paraplegia 30

MedGen UID:
1771693
•Concept ID:
C5401306
•
Disease or Syndrome

Definition

An autosomal recessive subtype of hereditary spastic paraplegia caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpastic Paraplegia 30

Professional guidelines

PubMed

Acute Aortic Occlusion and Its Sequelae: Metabolic, Pathologic Etiology, and Management.
Hines GL, Liu HH
Cardiol Rev 2021 Mar-Apr 01;29(2):57-61. doi: 10.1097/CRD.0000000000000313. PMID: 32349067
Contemporary endovascular treatment of type B aortic dissection in China.
Li H, Chan YC, Cheng SW
Asian Cardiovasc Thorac Ann 2016 Sep;24(7):739-49. Epub 2016 Jun 28 doi: 10.1177/0218492316657464. PMID: 27357117
Management of acute aortic syndrome and chronic aortic dissection.
Nordon IM, Hinchliffe RJ, Loftus IM, Morgan RA, Thompson MM
Cardiovasc Intervent Radiol 2011 Oct;34(5):890-902. Epub 2010 Nov 12 doi: 10.1007/s00270-010-0028-3. PMID: 21072634

Recent clinical studies

Etiology

Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.
Paprocka J, Jezela-Stanek A, Śmigiel R, Walczak A, Mierzewska H, Kutkowska-Kaźmierczak A, Płoski R, Emich-Widera E, Steinborn B
Genes (Basel) 2023 Apr 25;14(5) doi: 10.3390/genes14050972. PMID: 37239332Free PMC Article
Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene.
Krenn M, Zulehner G, Hotzy C, Rath J, Stogmann E, Wagner M, Haack TB, Strom TM, Zimprich A, Zimprich F
Eur J Neurol 2017 May;24(5):741-747. Epub 2017 Mar 22 doi: 10.1111/ene.13279. PMID: 28332297

Diagnosis

Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene.
Krenn M, Zulehner G, Hotzy C, Rath J, Stogmann E, Wagner M, Haack TB, Strom TM, Zimprich A, Zimprich F
Eur J Neurol 2017 May;24(5):741-747. Epub 2017 Mar 22 doi: 10.1111/ene.13279. PMID: 28332297

Prognosis

KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families.
Rudenskaya GE, Kadnikova VA, Ryzhkova OP, Bessonova LA, Dadali EL, Guseva DS, Markova TV, Khmelkova DN, Polyakov AV
BMC Neurol 2020 Aug 3;20(1):290. doi: 10.1186/s12883-020-01872-4. PMID: 32746806Free PMC Article

Clinical prediction guides

Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.
Paprocka J, Jezela-Stanek A, Śmigiel R, Walczak A, Mierzewska H, Kutkowska-Kaźmierczak A, Płoski R, Emich-Widera E, Steinborn B
Genes (Basel) 2023 Apr 25;14(5) doi: 10.3390/genes14050972. PMID: 37239332Free PMC Article

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