U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

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
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
Beetz C, Schüle R, Deconinck T, Tran-Viet KN, Zhu H, Kremer BP, Frints SG, van Zelst-Stams WA, Byrne P, Otto S, Nygren AO, Baets J, Smets K, Ceulemans B, Dan B, Nagan N, Kassubek J, Klimpe S, Klopstock T, Stolze H, Smeets HJ, Schrander-Stumpel CT, Hutchinson M, van de Warrenburg BP, Braastad C, Deufel T, Pericak-Vance M, Schöls L, de Jonghe P, Züchner S
Brain 2008 Apr;131(Pt 4):1078-86. Epub 2008 Mar 5 doi: 10.1093/brain/awn026. PMID: 18321925Free PMC Article
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...