Autosomal dominant spastic paraplegia type 9

MedGen UID:: 322007
•Concept ID:: C1832669
•: Disease or Syndrome

Synonyms:	Autosomal dominant spastic paraparesis; Bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy; Cataracts With Motor Neuronopathy, Short Stature, And Skeletal Abnormalities; Cataracts, motor neuronopathy, short stature and skeletal abnormalities; Spastic Paraparesis With Amyopathy, Cataracts, And Gastroesophageal Reflux; Spastic paraplegia 9, autosomal dominant

Monarch Initiative:	MONDO:0015091

Definition

Any autosomal dominant complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene. [from MONDO]

Recent clinical studies

Diagnosis

Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia.

Rinaldi C, Schmidt T, Situ AJ, Johnson JO, Lee PR, Chen KL, Bott LC, Fadó R, Harmison GH, Parodi S, Grunseich C, Renvoisé B, Biesecker LG, De Michele G, Santorelli FM, Filla A, Stevanin G, Dürr A, Brice A, Casals N, Traynor BJ, Blackstone C, Ulmer TS, Fischbeck KH
JAMA Neurol 2015 May;72(5):561-70. doi: 10.1001/jamaneurol.2014.4769. PMID: 25751282 Free PMC Article

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Prognosis

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: 32746806 Free PMC Article

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Clinical prediction guides

Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia.

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Autosomal dominant spastic paraplegia type 9

Definition

Recent clinical studies

Diagnosis

Prognosis

Clinical prediction guides

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Table of contents

Genetic Testing Registry

Clinical resources

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Reviews

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