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Hereditary spastic paraplegia 62(SPG62)

MedGen UID:
924879
Concept ID:
C4284588
Disease or Syndrome
Synonym: Spastic paraplegia 62, autosomal recessive
SNOMED CT: Autosomal recessive spastic paraplegia type 62 (765045003)
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).
 
Gene (location): ERLIN1 (10q24.31)
 
Monarch Initiative: MONDO:0014302
OMIM®: 615681
Orphanet: ORPHA401785

Definition

A pure or complex form of hereditary spastic paraplegia with characteristics of onset in the first decade of life of spastic paraparesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia and flexion contractures of the knees in some. [from SNOMEDCT_US]

Clinical features

From HPO
Ankle clonus
MedGen UID:
68672
Concept ID:
C0238651
Finding
Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.
Absent patellar reflexes
MedGen UID:
643630
Concept ID:
C0558844
Finding
Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella.
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Fasciculations
MedGen UID:
5124
Concept ID:
C0015644
Sign or Symptom
Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.
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.
Babinski sign
MedGen UID:
19708
Concept ID:
C0034935
Finding
Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Spastic gait
MedGen UID:
115907
Concept ID:
C0231687
Finding
Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.
Hoffmann sign
MedGen UID:
78828
Concept ID:
C0277839
Sign or Symptom
A Hoffmann test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test.
Tip-toe gait
MedGen UID:
98104
Concept ID:
C0427144
Finding
An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.
Gait disturbance
MedGen UID:
107895
Concept ID:
C0575081
Finding
The term gait disturbance can refer to any disruption of the ability to walk.
Lower limb spasticity
MedGen UID:
220865
Concept ID:
C1271100
Finding
Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis.
Lower limb hyperreflexia
MedGen UID:
322973
Concept ID:
C1836696
Finding
Abnormal cerebellum morphology
MedGen UID:
400925
Concept ID:
C1866129
Anatomical Abnormality
Any structural abnormality of the cerebellum.
Muscular atrophy
MedGen UID:
892680
Concept ID:
C0541794
Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Thoracic scoliosis
MedGen UID:
387910
Concept ID:
C1857790
Anatomical Abnormality

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary spastic paraplegia 62

Professional guidelines

PubMed

Travaglini L, Aiello C, Stregapede F, D'Amico A, Alesi V, Ciolfi A, Bruselles A, Catteruccia M, Pizzi S, Zanni G, Loddo S, Barresi S, Vasco G, Tartaglia M, Bertini E, Nicita F
Neurogenetics 2018 May;19(2):111-121. Epub 2018 Apr 24 doi: 10.1007/s10048-018-0545-9. PMID: 29691679

Recent clinical studies

Etiology

MacWilliams BA, Carroll KL, Stotts AK, Kerr LM, Schwartz MH
Gait Posture 2022 Oct;98:34-38. Epub 2022 Aug 17 doi: 10.1016/j.gaitpost.2022.08.011. PMID: 36041285
Varghaei P, Estiar MA, Ashtiani S, Veyron S, Mufti K, Leveille E, Yu E, Spiegelman D, Rioux MF, Yoon G, Tarnopolsky M, Boycott KM, Dupre N, Suchowersky O, Trempe JF, Rouleau GA, Gan-Or Z
Parkinsonism Relat Disord 2022 May;98:62-69. Epub 2022 Apr 16 doi: 10.1016/j.parkreldis.2022.03.019. PMID: 35487127
Schiavoni S, Spagnoli C, Rizzi S, Salerno GG, Frattini D, Pisani F, Fusco C
Dev Med Child Neurol 2020 Sep;62(9):1068-1074. Epub 2020 Apr 10 doi: 10.1111/dmcn.14547. PMID: 32277485
Joussain C, Levy J, Charlanes A, Even A, Falcou L, Chartier Kastler E, Denys P
Neurourol Urodyn 2019 Apr;38(4):1081-1085. Epub 2019 Mar 8 doi: 10.1002/nau.23957. PMID: 30848841
Hedera P, Rainier S, Alvarado D, Zhao X, Williamson J, Otterud B, Leppert M, Fink JK
Am J Hum Genet 1999 Feb;64(2):563-9. doi: 10.1086/302258. PMID: 9973294Free PMC Article

Diagnosis

MacWilliams BA, Carroll KL, Stotts AK, Kerr LM, Schwartz MH
Gait Posture 2022 Oct;98:34-38. Epub 2022 Aug 17 doi: 10.1016/j.gaitpost.2022.08.011. PMID: 36041285
Varghaei P, Estiar MA, Ashtiani S, Veyron S, Mufti K, Leveille E, Yu E, Spiegelman D, Rioux MF, Yoon G, Tarnopolsky M, Boycott KM, Dupre N, Suchowersky O, Trempe JF, Rouleau GA, Gan-Or Z
Parkinsonism Relat Disord 2022 May;98:62-69. Epub 2022 Apr 16 doi: 10.1016/j.parkreldis.2022.03.019. PMID: 35487127
Schiavoni S, Spagnoli C, Rizzi S, Salerno GG, Frattini D, Pisani F, Fusco C
Dev Med Child Neurol 2020 Sep;62(9):1068-1074. Epub 2020 Apr 10 doi: 10.1111/dmcn.14547. PMID: 32277485
Joussain C, Levy J, Charlanes A, Even A, Falcou L, Chartier Kastler E, Denys P
Neurourol Urodyn 2019 Apr;38(4):1081-1085. Epub 2019 Mar 8 doi: 10.1002/nau.23957. PMID: 30848841
Biancheri R, Ciccolella M, Rossi A, Tessa A, Cassandrini D, Minetti C, Santorelli FM
Neuromuscul Disord 2009 Jan;19(1):62-5. doi: 10.1016/j.nmd.2008.10.009. PMID: 19187859

Therapy

Diniz de Lima F, Faber I, Servelhere KR, Bittar MFR, Martinez ARM, Piovesana LG, Martins MP, Martins CR Jr, Benaglia T, de Sá Carvalho B, Nucci A, França MC Jr
Mov Disord 2021 Jul;36(7):1654-1663. Epub 2021 Feb 17 doi: 10.1002/mds.28523. PMID: 33595142
Bushman W, Steers WD, Meythaler JM
Neurourol Urodyn 1993;12(2):163-70. doi: 10.1002/nau.1930120210. PMID: 7920673
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

Zhu ZY, Li ZY, Zhang C, Liu XL, Tian WT, Cao L
Eur J Med Genet 2022 Nov;65(11):104608. Epub 2022 Sep 12 doi: 10.1016/j.ejmg.2022.104608. PMID: 36100157
MacWilliams BA, Carroll KL, Stotts AK, Kerr LM, Schwartz MH
Gait Posture 2022 Oct;98:34-38. Epub 2022 Aug 17 doi: 10.1016/j.gaitpost.2022.08.011. PMID: 36041285
Politi LS, Castellano A, Papinutto N, Mauro E, Pareyson D, Henry RG, Falini A, Salsano E
Eur J Neurol 2019 Oct;26(10):1341-1344. Epub 2019 May 2 doi: 10.1111/ene.13959. PMID: 30932272
Loureiro JL, Brandão E, Ruano L, Brandão AF, Lopes AM, Thieleke-Matos C, Miller-Fleming L, Cruz VT, Barbosa M, Silveira I, Stevanin G, Pinto-Basto J, Sequeiros J, Alonso I, Coutinho P
JAMA Neurol 2013 Apr;70(4):481-7. doi: 10.1001/jamaneurol.2013.1956. PMID: 23400676
Biancheri R, Ciccolella M, Rossi A, Tessa A, Cassandrini D, Minetti C, Santorelli FM
Neuromuscul Disord 2009 Jan;19(1):62-5. doi: 10.1016/j.nmd.2008.10.009. PMID: 19187859

Clinical prediction guides

Zhu ZY, Li ZY, Zhang C, Liu XL, Tian WT, Cao L
Eur J Med Genet 2022 Nov;65(11):104608. Epub 2022 Sep 12 doi: 10.1016/j.ejmg.2022.104608. PMID: 36100157
MacWilliams BA, Carroll KL, Stotts AK, Kerr LM, Schwartz MH
Gait Posture 2022 Oct;98:34-38. Epub 2022 Aug 17 doi: 10.1016/j.gaitpost.2022.08.011. PMID: 36041285
Politi LS, Castellano A, Papinutto N, Mauro E, Pareyson D, Henry RG, Falini A, Salsano E
Eur J Neurol 2019 Oct;26(10):1341-1344. Epub 2019 May 2 doi: 10.1111/ene.13959. PMID: 30932272
Biancheri R, Ciccolella M, Rossi A, Tessa A, Cassandrini D, Minetti C, Santorelli FM
Neuromuscul Disord 2009 Jan;19(1):62-5. doi: 10.1016/j.nmd.2008.10.009. PMID: 19187859
Hedera P, Rainier S, Alvarado D, Zhao X, Williamson J, Otterud B, Leppert M, Fink JK
Am J Hum Genet 1999 Feb;64(2):563-9. doi: 10.1086/302258. PMID: 9973294Free PMC Article

Recent systematic reviews

Loureiro JL, Brandão E, Ruano L, Brandão AF, Lopes AM, Thieleke-Matos C, Miller-Fleming L, Cruz VT, Barbosa M, Silveira I, Stevanin G, Pinto-Basto J, Sequeiros J, Alonso I, Coutinho P
JAMA Neurol 2013 Apr;70(4):481-7. doi: 10.1001/jamaneurol.2013.1956. PMID: 23400676

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