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Hereditary spastic paraplegia 61(SPG61)

MedGen UID:
816624
•Concept ID:
C3810294
•
Disease or Syndrome
Synonym: Spastic paraplegia 61, autosomal recessive
SNOMED CT: Autosomal recessive spastic paraplegia type 61 (726611001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): ARL6IP1 (16p12.3)
 
Monarch Initiative: MONDO:0014304
OMIM®: 615685
Orphanet: ORPHA401780

Definition

Autosomal recessive spastic paraplegia-61 (SPG61) is a complicated, early-onset spastic paraplegia (summary by Chukhrova et al., 2019). [from OMIM]

Clinical features

From HPO
Absent Achilles reflex
MedGen UID:
108240
•Concept ID:
C0558845
•
Finding
Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed.
See: Feature record | Search on this feature
Spasticity
MedGen UID:
7753
•Concept ID:
C0026838
•
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
See: Feature record | Search on this feature
Spastic paraplegia
MedGen UID:
20882
•Concept ID:
C0037772
•
Disease or Syndrome
Spasticity and weakness of the leg and hip muscles.
See: Feature record | Search on this feature
Sensory neuropathy
MedGen UID:
101791
•Concept ID:
C0151313
•
Disease or Syndrome
Peripheral neuropathy affecting the sensory nerves.
See: Feature record | Search on this feature
Scissor gait
MedGen UID:
68547
•Concept ID:
C0231698
•
Finding
A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use.
See: Feature record | Search on this feature
Hyperactive patellar reflex
MedGen UID:
66003
•Concept ID:
C0240116
•
Finding
See: Feature record | Search on this feature
Motor polyneuropathy
MedGen UID:
82885
•Concept ID:
C0271683
•
Disease or Syndrome
Inflammation or degeneration of the peripheral motor nerves.
See: Feature record | Search on this feature
Inability to walk
MedGen UID:
107860
•Concept ID:
C0560046
•
Finding
Incapability to ambulate.
See: Feature record | Search on this feature
Intellectual disability
MedGen UID:
811461
•Concept ID:
C3714756
•
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary spastic paraplegia 61
Follow this link to review classifications for Hereditary spastic paraplegia 61 in Orphanet.

Recent clinical studies

Etiology

Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy.
Xu L, Wang Y, Wang W, Zhang R, Zhao D, Yun Y, Liu F, Zhao Y, Yan C, Lin P
J Med Genet 2024 Mar 21;61(4):325-331. doi: 10.1136/jmg-2023-109485. PMID: 37890998
Hereditary spastic paraplegia in Mali: epidemiological and clinical features.
Diarra S, Coulibaly T, Dembélé K, Ngouth N, Cissé L, Diallo SH, Ouologuem M, Diallo S, Coulibaly O, Bagayoko K, Coulibaly D, Simaga A, Sango HA, Traoré M, Jacobson S, Fischbeck KH, Landouré G, Guinto CO; H3Africa consortium
Acta Neurol Belg 2023 Dec;123(6):2155-2165. Epub 2022 Nov 17 doi: 10.1007/s13760-022-02113-w. PMID: 36396882
Hereditary spastic paraplegia: Genetic heterogeneity and common pathways.
Panza E, Meyyazhagan A, Orlacchio A
Exp Neurol 2022 Nov;357:114203. Epub 2022 Aug 13 doi: 10.1016/j.expneurol.2022.114203. PMID: 35970204
SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia.
Mészárosová AU, Putzová M, Čermáková M, Vávrová D, Doležalová K, Smetanová I, Stejskal D, Beetz C, Seeman P
J Hum Genet 2016 Oct;61(10):845-850. Epub 2016 Jun 23 doi: 10.1038/jhg.2016.73. PMID: 27334366
Health-related quality of life in patients with hereditary spastic paraplegia in Estonia.
Braschinsky M, Rannikmäe K, Krikmann U, Lüüs SM, Raidvee A, Gross-Paju K, Haldre S
Spinal Cord 2011 Feb;49(2):175-81. Epub 2010 May 25 doi: 10.1038/sc.2010.61. PMID: 20498662

Diagnosis

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.
Pellerin D, Danzi MC, Wilke C, Renaud M, Fazal S, Dicaire MJ, Scriba CK, Ashton C, Yanick C, Beijer D, Rebelo A, Rocca C, Jaunmuktane Z, Sonnen JA, Larivière R, Genís D, Molina Porcel L, Choquet K, Sakalla R, Provost S, Robertson R, Allard-Chamard X, Tétreault M, Reiling SJ, Nagy S, Nishadham V, Purushottam M, Vengalil S, Bardhan M, Nalini A, Chen Z, Mathieu J, Massie R, Chalk CH, Lafontaine AL, Evoy F, Rioux MF, Ragoussis J, Boycott KM, Dubé MP, Duquette A, Houlden H, Ravenscroft G, Laing NG, Lamont PJ, Saporta MA, Schüle R, Schöls L, La Piana R, Synofzik M, Zuchner S, Brais B
N Engl J Med 2023 Jan 12;388(2):128-141. Epub 2022 Dec 14 doi: 10.1056/NEJMoa2207406. PMID: 36516086Free PMC Article
Hereditary spastic paraplegia: Genetic heterogeneity and common pathways.
Panza E, Meyyazhagan A, Orlacchio A
Exp Neurol 2022 Nov;357:114203. Epub 2022 Aug 13 doi: 10.1016/j.expneurol.2022.114203. PMID: 35970204
A Case Study of Hereditary Spastic Paraplegia.
Nirmal AK
J Assoc Physicians India 2020 Jan;68(1):61. PMID: 31979651
Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation.
Dalpozzo F, Rossetto MG, Boaretto F, Sartori E, Mostacciuolo ML, Daga A, Bassi MT, Martinuzzi A
Neurology 2003 Aug 26;61(4):580-1. doi: 10.1212/01.wnl.0000078189.73611.df. PMID: 12939451
Pelizaeus-Merzbacher disease.
Koeppen AH, Robitaille Y
J Neuropathol Exp Neurol 2002 Sep;61(9):747-59. doi: 10.1093/jnen/61.9.747. PMID: 12230321

Therapy

The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Saffari A, Kellner M, Jordan C, Rosengarten H, Mo A, Zhang B, Strelko O, Neuser S, Davis MY, Yoshikura N, Futamura N, Takeuchi T, Nabatame S, Ishiura H, Tsuji S, Aldeen HS, Cali E, Rocca C, Houlden H, Efthymiou S, Assmann B, Yoon G, Trombetta BA, Kivisäkk P, Eichler F, Nan H, Takiyama Y, Tessa A, Santorelli FM, Sahin M, Blackstone C, Yang E, Schüle R, Ebrahimi-Fakhari D
Brain 2023 May 2;146(5):2003-2015. doi: 10.1093/brain/awac391. PMID: 36315648Free PMC Article
The clinical effect of the GABA-agonist, progabide, on spasticity.
Mondrup K, Pedersen E
Acta Neurol Scand 1984 Apr;69(4):200-6. doi: 10.1111/j.1600-0404.1984.tb07802.x. PMID: 6377802

Prognosis

Hereditary spastic paraplegia in Mali: epidemiological and clinical features.
Diarra S, Coulibaly T, Dembélé K, Ngouth N, Cissé L, Diallo SH, Ouologuem M, Diallo S, Coulibaly O, Bagayoko K, Coulibaly D, Simaga A, Sango HA, Traoré M, Jacobson S, Fischbeck KH, Landouré G, Guinto CO; H3Africa consortium
Acta Neurol Belg 2023 Dec;123(6):2155-2165. Epub 2022 Nov 17 doi: 10.1007/s13760-022-02113-w. PMID: 36396882
Mutation analysis of CAPN1 in Chinese populations with spastic paraplegia and related neurodegenerative diseases.
Xia ZC, Liu ZH, Zhou XX, Liu Z, Wang JL, Hu ZM, Tan JQ, Shen L, Jiang H, Tang BS, Lei LF
J Neurol Sci 2020 Apr 15;411:116691. Epub 2020 Jan 18 doi: 10.1016/j.jns.2020.116691. PMID: 31982778
Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia.
Hedera P, Fenichel GM, Blair M, Haines JL
Arch Neurol 2004 Oct;61(10):1600-3. doi: 10.1001/archneur.61.10.1600. PMID: 15477516

Clinical prediction guides

Hereditary spastic paraplegia in Mali: epidemiological and clinical features.
Diarra S, Coulibaly T, Dembélé K, Ngouth N, Cissé L, Diallo SH, Ouologuem M, Diallo S, Coulibaly O, Bagayoko K, Coulibaly D, Simaga A, Sango HA, Traoré M, Jacobson S, Fischbeck KH, Landouré G, Guinto CO; H3Africa consortium
Acta Neurol Belg 2023 Dec;123(6):2155-2165. Epub 2022 Nov 17 doi: 10.1007/s13760-022-02113-w. PMID: 36396882
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Saffari A, Kellner M, Jordan C, Rosengarten H, Mo A, Zhang B, Strelko O, Neuser S, Davis MY, Yoshikura N, Futamura N, Takeuchi T, Nabatame S, Ishiura H, Tsuji S, Aldeen HS, Cali E, Rocca C, Houlden H, Efthymiou S, Assmann B, Yoon G, Trombetta BA, Kivisäkk P, Eichler F, Nan H, Takiyama Y, Tessa A, Santorelli FM, Sahin M, Blackstone C, Yang E, Schüle R, Ebrahimi-Fakhari D
Brain 2023 May 2;146(5):2003-2015. doi: 10.1093/brain/awac391. PMID: 36315648Free PMC Article
Hereditary spastic paraplegia: Genetic heterogeneity and common pathways.
Panza E, Meyyazhagan A, Orlacchio A
Exp Neurol 2022 Nov;357:114203. Epub 2022 Aug 13 doi: 10.1016/j.expneurol.2022.114203. PMID: 35970204
Carnitine palmitoyltransferase 1C: From cognition to cancer.
Casals N, Zammit V, Herrero L, Fadó R, Rodríguez-Rodríguez R, Serra D
Prog Lipid Res 2016 Jan;61:134-48. Epub 2015 Dec 18 doi: 10.1016/j.plipres.2015.11.004. PMID: 26708865
Health-related quality of life in patients with hereditary spastic paraplegia in Estonia.
Braschinsky M, Rannikmäe K, Krikmann U, Lüüs SM, Raidvee A, Gross-Paju K, Haldre S
Spinal Cord 2011 Feb;49(2):175-81. Epub 2010 May 25 doi: 10.1038/sc.2010.61. PMID: 20498662

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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