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Maternally-inherited spastic paraplegia

MedGen UID:
1663227
•Concept ID:
C4755299
•
Disease or Syndrome
Synonyms: maternally-inherited spastic paraplegia; Maternally-inherited SPG; maternally-inherited SPG; Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia; MT-ATP6-related mitochondrial spastic paraplegia
SNOMED CT: Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (778048001); Maternally-inherited spastic paraplegia (778048001); MT-ATP6-related mitochondrial spastic paraplegia (778048001)
Modes of inheritance:
Mitochondrial inheritance
MedGen UID:
165802
•Concept ID:
C0887941
•
Genetic Function
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy).
Mitochondrial inheritance (Orphanet)
 
Monarch Initiative: MONDO:0017917
Orphanet: ORPHA320360

Definition

A rare genetic complex hereditary spastic paraplegia disorder with characteristics of adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMaternally-inherited spastic paraplegia

Recent clinical studies

Etiology

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
Phenotypic evolution of UNC80 loss of function.
Valkanas E, Schaffer K, Dunham C, Maduro V, du Souich C, Rupps R, Adams DR, Baradaran-Heravi A, Flynn E, Malicdan MC, Gahl WA, Toro C, Boerkoel CF
Am J Med Genet A 2016 Dec;170(12):3106-3114. Epub 2016 Aug 11 doi: 10.1002/ajmg.a.37929. PMID: 27513830Free PMC Article
Genetic analysis of SPG4 and SPG3A genes in a cohort of Chinese patients with hereditary spastic paraplegia.
Lu X, Cen Z, Xie F, Ouyang Z, Zhang B, Zhao G, Luo W
J Neurol Sci 2014 Dec 15;347(1-2):368-71. Epub 2014 Oct 16 doi: 10.1016/j.jns.2014.10.017. PMID: 25454648
Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms.
Lo Giudice T, Lombardi F, Santorelli FM, Kawarai T, Orlacchio A
Exp Neurol 2014 Nov;261:518-39. Epub 2014 Jun 20 doi: 10.1016/j.expneurol.2014.06.011. PMID: 24954637
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

Diagnosis

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
Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in SPG11.
Yu AC, Chan AY, Au WC, Shen Y, Chan TF, Chan HE
Cold Spring Harb Mol Case Stud 2016 Nov;2(6):a001248. doi: 10.1101/mcs.a001248. PMID: 27900367Free PMC Article
Outline of metabolic diseases in adult neurology.
Mochel F
Rev Neurol (Paris) 2015 Jun-Jul;171(6-7):531-8. Epub 2015 May 20 doi: 10.1016/j.neurol.2015.02.018. PMID: 26002495
Palmo-Plantar hyperkeratosis, intellectual disability, and spastic paraplegia in two maternal half brothers: further evidence for an X-linked inheritance.
Isidor B, Lefebvre T, Barbarot S, Perrier J, Mercier S, Péréon Y, Le Caignec C, David A
Am J Med Genet A 2013 Jun;161A(6):1390-3. Epub 2013 Apr 23 doi: 10.1002/ajmg.a.35871. PMID: 23613454
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

Therapy

Differing clinical features between Japanese siblings with cerebrotendinous xanthomatosis with a novel compound heterozygous CYP27A1 mutation: a case report.
Koyama S, Okabe Y, Suzuki Y, Igari R, Sato H, Iseki C, Tanji K, Suzuki K, Ohta Y
BMC Neurol 2022 May 25;22(1):193. doi: 10.1186/s12883-022-02711-4. PMID: 35614401Free PMC Article

Prognosis

Differing clinical features between Japanese siblings with cerebrotendinous xanthomatosis with a novel compound heterozygous CYP27A1 mutation: a case report.
Koyama S, Okabe Y, Suzuki Y, Igari R, Sato H, Iseki C, Tanji K, Suzuki K, Ohta Y
BMC Neurol 2022 May 25;22(1):193. doi: 10.1186/s12883-022-02711-4. PMID: 35614401Free PMC Article
Phenotypic evolution of UNC80 loss of function.
Valkanas E, Schaffer K, Dunham C, Maduro V, du Souich C, Rupps R, Adams DR, Baradaran-Heravi A, Flynn E, Malicdan MC, Gahl WA, Toro C, Boerkoel CF
Am J Med Genet A 2016 Dec;170(12):3106-3114. Epub 2016 Aug 11 doi: 10.1002/ajmg.a.37929. PMID: 27513830Free PMC Article

Clinical prediction guides

Differing clinical features between Japanese siblings with cerebrotendinous xanthomatosis with a novel compound heterozygous CYP27A1 mutation: a case report.
Koyama S, Okabe Y, Suzuki Y, Igari R, Sato H, Iseki C, Tanji K, Suzuki K, Ohta Y
BMC Neurol 2022 May 25;22(1):193. doi: 10.1186/s12883-022-02711-4. PMID: 35614401Free PMC Article
Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation.
Magri S, Fracasso V, Plumari M, Alfei E, Ghezzi D, Gellera C, Rusmini P, Poletti A, Di Bella D, Elia AE, Pantaleoni C, Taroni F
Hum Mutat 2018 Dec;39(12):2060-2071. Epub 2018 Oct 10 doi: 10.1002/humu.23658. PMID: 30252181
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
Phenotypic evolution of UNC80 loss of function.
Valkanas E, Schaffer K, Dunham C, Maduro V, du Souich C, Rupps R, Adams DR, Baradaran-Heravi A, Flynn E, Malicdan MC, Gahl WA, Toro C, Boerkoel CF
Am J Med Genet A 2016 Dec;170(12):3106-3114. Epub 2016 Aug 11 doi: 10.1002/ajmg.a.37929. PMID: 27513830Free PMC Article

Supplemental Content

Table of contents

    Genetic Testing Registry

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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