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Autosomal dominant complex spastic paraplegia

MedGen UID:
1842369
•Concept ID:
C5680379
•
Disease or Syndrome
Synonyms: autosomal dominant complex hereditary spastic paraplegia; Autosomal dominant complex HSP; autosomal dominant complex HSP; autosomal dominant complex spastic paraplegia; Autosomal dominant complex SPG; autosomal dominant complex SPG; autosomal dominant complicated HSP; Autosomal dominant complicated HSP; Autosomal dominant complicated spastic paraplegia; autosomal dominant complicated spastic paraplegia; Autosomal dominant complicated SPG; autosomal dominant complicated SPG; complex hereditary spastic paraplegia, autosomal dominant
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)
 
Monarch Initiative: MONDO:0015087
Orphanet: ORPHA100979

Definition

Autosomal dominant form of complex hereditary spastic paraplegia. [from MONDO]

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

Recent clinical studies

Etiology

Clinical and genetic spectrum of hereditary spastic paraplegia in Chinese children.
Wang J, Fang F, Ding C, Li J, Wu Y, Zhang W, Bao X, Lv J, Wang X, Ren X; Paediatric Neurology Study Group
Dev Med Child Neurol 2023 Mar;65(3):416-423. Epub 2022 Sep 15 doi: 10.1111/dmcn.15385. PMID: 36109173
Hereditary spastic paraplegia: More than an upper motor neuron disease.
Parodi L, Fenu S, Stevanin G, Durr A
Rev Neurol (Paris) 2017 May;173(5):352-360. Epub 2017 Apr 24 doi: 10.1016/j.neurol.2017.03.034. PMID: 28449883
Dopa-responsive dystonia--clinical and genetic heterogeneity.
Wijemanne S, Jankovic J
Nat Rev Neurol 2015 Jul;11(7):414-24. Epub 2015 Jun 23 doi: 10.1038/nrneurol.2015.86. PMID: 26100751
Human genetic disorders of sphingolipid biosynthesis.
Astudillo L, Sabourdy F, Therville N, Bode H, Ségui B, Andrieu-Abadie N, Hornemann T, Levade T
J Inherit Metab Dis 2015 Jan;38(1):65-76. Epub 2014 Aug 21 doi: 10.1007/s10545-014-9736-1. PMID: 25141825
The distal hereditary motor neuropathies.
Rossor AM, Kalmar B, Greensmith L, Reilly MM
J Neurol Neurosurg Psychiatry 2012 Jan;83(1):6-14. Epub 2011 Oct 25 doi: 10.1136/jnnp-2011-300952. PMID: 22028385

Diagnosis

Clinical and genetic spectrum of hereditary spastic paraplegia in Chinese children.
Wang J, Fang F, Ding C, Li J, Wu Y, Zhang W, Bao X, Lv J, Wang X, Ren X; Paediatric Neurology Study Group
Dev Med Child Neurol 2023 Mar;65(3):416-423. Epub 2022 Sep 15 doi: 10.1111/dmcn.15385. PMID: 36109173
Hereditary spastic paraplegia: More than an upper motor neuron disease.
Parodi L, Fenu S, Stevanin G, Durr A
Rev Neurol (Paris) 2017 May;173(5):352-360. Epub 2017 Apr 24 doi: 10.1016/j.neurol.2017.03.034. PMID: 28449883
Dopa-responsive dystonia--clinical and genetic heterogeneity.
Wijemanne S, Jankovic J
Nat Rev Neurol 2015 Jul;11(7):414-24. Epub 2015 Jun 23 doi: 10.1038/nrneurol.2015.86. PMID: 26100751
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.
Finsterer J, Löscher W, Quasthoff S, Wanschitz J, Auer-Grumbach M, Stevanin G
J Neurol Sci 2012 Jul 15;318(1-2):1-18. Epub 2012 May 1 doi: 10.1016/j.jns.2012.03.025. PMID: 22554690
The distal hereditary motor neuropathies.
Rossor AM, Kalmar B, Greensmith L, Reilly MM
J Neurol Neurosurg Psychiatry 2012 Jan;83(1):6-14. Epub 2011 Oct 25 doi: 10.1136/jnnp-2011-300952. PMID: 22028385

Therapy

Dopa-responsive dystonia--clinical and genetic heterogeneity.
Wijemanne S, Jankovic J
Nat Rev Neurol 2015 Jul;11(7):414-24. Epub 2015 Jun 23 doi: 10.1038/nrneurol.2015.86. PMID: 26100751

Prognosis

RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.
Maroofian R, Sarraf P, O'Brien TJ, Kamel M, Cakar A, Elkhateeb N, Lau T, Patil SJ, Record CJ, Horga A, Essid M, Selim L, Benrhouma H, Ben Younes T, Zifarelli G, Pagnamenta AT, Bauer P, Khundadze M, Mirecki A, Kamel SM, Elmonem MA, Ghayoor Karimiani E, Jamshidi Y, Offiah AC, Rossor AM, Youssef-Turki IB, Hübner CA, Munot P, Reilly MM, Brown AEX, Nagy S, Houlden H
Brain 2024 Jul 5;147(7):2334-2343. doi: 10.1093/brain/awae091. PMID: 38527963Free PMC Article
Mitochondrial dynamics and inherited peripheral nerve diseases.
Pareyson D, Saveri P, Sagnelli A, Piscosquito G
Neurosci Lett 2015 Jun 2;596:66-77. Epub 2015 Apr 3 doi: 10.1016/j.neulet.2015.04.001. PMID: 25847151
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.
Dufke C, Schlipf N, Schüle R, Bonin M, Auer-Grumbach M, Stevanin G, Depienne C, Kassubek J, Klebe S, Klimpe S, Klopstock T, Otto S, Poths S, Seibel A, Stolze H, Gal A, Schöls L, Bauer P
Neurogenetics 2012 Aug;13(3):215-27. Epub 2012 May 3 doi: 10.1007/s10048-012-0329-6. PMID: 22552817
Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.
Yu-Wai-Man P, Griffiths PG, Chinnery PF
Prog Retin Eye Res 2011 Mar;30(2):81-114. Epub 2010 Nov 26 doi: 10.1016/j.preteyeres.2010.11.002. PMID: 21112411Free PMC Article
Olivopontocerebellar atrophy: toward a better nosological definition.
Berciano J, Boesch S, Pérez-Ramos JM, Wenning GK
Mov Disord 2006 Oct;21(10):1607-13. doi: 10.1002/mds.21052. PMID: 16874757

Clinical prediction guides

Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4.
Navas-Sánchez FJ, Fernández-Pena A, Martín de Blas D, Alemán-Gómez Y, Marcos-Vidal L, Guzmán-de-Villoria JA, Fernández-García P, Romero J, Catalina I, Lillo L, Muñoz-Blanco JL, Ordoñez-Ugalde A, Quintáns B, Pardo J, Sobrido MJ, Carmona S, Grandas F, Desco M
J Neurol 2021 Jul;268(7):2429-2440. Epub 2021 Jan 28 doi: 10.1007/s00415-020-10387-4. PMID: 33507371
Hereditary spastic paraplegia: More than an upper motor neuron disease.
Parodi L, Fenu S, Stevanin G, Durr A
Rev Neurol (Paris) 2017 May;173(5):352-360. Epub 2017 Apr 24 doi: 10.1016/j.neurol.2017.03.034. PMID: 28449883
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
Kara E, Tucci A, Manzoni C, Lynch DS, Elpidorou M, Bettencourt C, Chelban V, Manole A, Hamed SA, Haridy NA, Federoff M, Preza E, Hughes D, Pittman A, Jaunmuktane Z, Brandner S, Xiromerisiou G, Wiethoff S, Schottlaender L, Proukakis C, Morris H, Warner T, Bhatia KP, Korlipara LV, Singleton AB, Hardy J, Wood NW, Lewis PA, Houlden H
Brain 2016 Jul;139(Pt 7):1904-18. Epub 2016 May 23 doi: 10.1093/brain/aww111. PMID: 27217339Free PMC Article
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.
Dufke C, Schlipf N, Schüle R, Bonin M, Auer-Grumbach M, Stevanin G, Depienne C, Kassubek J, Klebe S, Klimpe S, Klopstock T, Otto S, Poths S, Seibel A, Stolze H, Gal A, Schöls L, Bauer P
Neurogenetics 2012 Aug;13(3):215-27. Epub 2012 May 3 doi: 10.1007/s10048-012-0329-6. PMID: 22552817
Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.
Yu-Wai-Man P, Griffiths PG, Chinnery PF
Prog Retin Eye Res 2011 Mar;30(2):81-114. Epub 2010 Nov 26 doi: 10.1016/j.preteyeres.2010.11.002. PMID: 21112411Free PMC Article

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