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Autosomal dominant pure spastic paraplegia

MedGen UID:
1842285
•Concept ID:
C5680378
•
Disease or Syndrome
Synonyms: Autosomal dominant pure HSP; Autosomal dominant pure SPG; Autosomal dominant uncomplicated HSP; Autosomal dominant uncomplicated spastic paraplegia; Autosomal dominant uncomplicated SPG
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Orphanet: ORPHA100980

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal dominant pure spastic paraplegia

Professional guidelines

PubMed

De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations.
Alecu JE, Saffari A, Jordan C, Srivastava S, Blackstone C, Ebrahimi-Fakhari D
Hum Mol Genet 2023 Jan 1;32(1):93-103. doi: 10.1093/hmg/ddac182. PMID: 35925862Free PMC Article
Clinical features and management of hereditary spastic paraplegia.
Faber I, Servelhere KR, Martinez AR, D'Abreu A, Lopes-Cendes I, França MC Jr
Arq Neuropsiquiatr 2014 Mar;72(3):219-26. doi: 10.1590/0004-282x20130248. PMID: 24676440
Hereditary spastic paraplegia: genetic heterogeneity and genotype-phenotype correlation.
Fink JK, Hedera P
Semin Neurol 1999;19(3):301-9. doi: 10.1055/s-2008-1040846. PMID: 12194386

Recent clinical studies

Etiology

A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34.
Fontaine B, Davoine CS, Dürr A, Paternotte C, Feki I, Weissenbach J, Hazan J, Brice A
Am J Hum Genet 2000 Feb;66(2):702-7. doi: 10.1086/302776. PMID: 10677329Free PMC Article
Autosomal dominant pure spastic paraplegia: a clinical, paraclinical, and genetic study.
Nielsen JE, Krabbe K, Jennum P, Koefoed P, Jensen LN, Fenger K, Eiberg H, Hasholt L, Werdelin L, Sørensen SA
J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6. doi: 10.1136/jnnp.64.1.61. PMID: 9436729Free PMC Article

Diagnosis

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.
Dürr A, Camuzat A, Colin E, Tallaksen C, Hannequin D, Coutinho P, Fontaine B, Rossi A, Gil R, Rousselle C, Ruberg M, Stevanin G, Brice A
Arch Neurol 2004 Dec;61(12):1867-72. doi: 10.1001/archneur.61.12.1867. PMID: 15596607
Increased intracortical facilitation in patients with autosomal dominant pure spastic paraplegia linked to chromosome 2p.
Nielsen JE, Jennum P, Fenger K, Sørensen SA, Fuglsang-Frederiksen A
Eur J Neurol 2001 Jul;8(4):335-9. doi: 10.1046/j.1468-1331.2001.00249.x. PMID: 11422430
Urodynamic evaluation of patients with autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24.
Jensen LN, Gerstenberg T, Kallestrup EB, Koefoed P, Nordling J, Nielsen JE
J Neurol Neurosurg Psychiatry 1998 Nov;65(5):693-6. doi: 10.1136/jnnp.65.5.693. PMID: 9810939Free PMC Article
Autosomal dominant pure spastic paraplegia: a clinical, paraclinical, and genetic study.
Nielsen JE, Krabbe K, Jennum P, Koefoed P, Jensen LN, Fenger K, Eiberg H, Hasholt L, Werdelin L, Sørensen SA
J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6. doi: 10.1136/jnnp.64.1.61. PMID: 9436729Free PMC Article
MRI of autosomal dominant pure spastic paraplegia.
Krabbe K, Nielsen JE, Fallentin E, Fenger K, Herning M
Neuroradiology 1997 Oct;39(10):724-7. doi: 10.1007/s002340050495. PMID: 9351110

Clinical prediction guides

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.
Dürr A, Camuzat A, Colin E, Tallaksen C, Hannequin D, Coutinho P, Fontaine B, Rossi A, Gil R, Rousselle C, Ruberg M, Stevanin G, Brice A
Arch Neurol 2004 Dec;61(12):1867-72. doi: 10.1001/archneur.61.12.1867. PMID: 15596607
A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34.
Fontaine B, Davoine CS, Dürr A, Paternotte C, Feki I, Weissenbach J, Hazan J, Brice A
Am J Hum Genet 2000 Feb;66(2):702-7. doi: 10.1086/302776. PMID: 10677329Free PMC Article
Autosomal dominant pure spastic paraplegia: a clinical, paraclinical, and genetic study.
Nielsen JE, Krabbe K, Jennum P, Koefoed P, Jensen LN, Fenger K, Eiberg H, Hasholt L, Werdelin L, Sørensen SA
J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6. doi: 10.1136/jnnp.64.1.61. PMID: 9436729Free PMC Article

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