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Hereditary spastic paraplegia 30(SPG30)

MedGen UID:
1710020
Concept ID:
C5235139
Disease or Syndrome
Synonyms: Spastic Paraplegia 30; SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT; Spastic paraplegia 30, autosomal recessive
SNOMED CT: Autosomal spastic paraplegia type 30 (763377006)
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 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.
 
Gene (location): KIF1A (2q37.3)
 
Monarch Initiative: MONDO:0012476
OMIM®: 610357
Orphanet: ORPHA101010

Definition

Spastic paraplegia-30 (SPG30) is a neurologic disorder characterized by onset of slowly progressive spastic paraplegia in the first or second decades of life. Affected individuals have unsteady spastic gait and hyperreflexia of the lower limbs. Some patients have a 'pure' form of the disorder, limited to spastic paraplegia, whereas others may have a 'complicated' form that includes cognitive dysfunction, learning disabilities, or behavioral abnormalities, peripheral sensorimotor neuropathy, urinary sphincter problems, and/or cerebellar atrophy with thin corpus callosum on brain imaging. The phenotypic features represent a spectrum of abnormalities of the central, peripheral, and autonomic nervous system (summary by Pennings et al., 2020). For a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800). [from OMIM]

Clinical features

From HPO
Urinary bladder sphincter dysfunction
MedGen UID:
334804
Concept ID:
C1843663
Finding
Abnormal function of a sphincter of the urinary bladder.
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.
Lower limb muscle weakness
MedGen UID:
324478
Concept ID:
C1836296
Finding
Weakness of the muscles of the legs.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
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.
Spastic paraplegia
MedGen UID:
20882
Concept ID:
C0037772
Disease or Syndrome
Spasticity and weakness of the leg and hip muscles.
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.
Dysmetria
MedGen UID:
68583
Concept ID:
C0234162
Finding
A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.
Cerebellar atrophy
MedGen UID:
196624
Concept ID:
C0740279
Disease or Syndrome
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Peripheral axonal neuropathy
MedGen UID:
266071
Concept ID:
C1263857
Disease or Syndrome
An abnormality characterized by disruption of the normal functioning of peripheral axons.
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 amyotrophy
MedGen UID:
870475
Concept ID:
C4024921
Finding
Muscular atrophy affecting the lower limb.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary spastic paraplegia 30

Professional guidelines

PubMed

Leighton DJ, Ansari M, Newton J, Parry D, Cleary E, Colville S, Stephenson L, Larraz J, Johnson M, Beswick E, Wong M, Gregory J, Carod Artal J, Davenport R, Duncan C, Morrison I, Smith C, Swingler R, Deary IJ, Porteous M, Aitman TJ, Chandran S, Gorrie GH, Pal S; Lothian Birth Cohorts Group; and the CARE-MND Consortium
J Neurol 2023 Mar;270(3):1702-1712. Epub 2022 Dec 14 doi: 10.1007/s00415-022-11505-0. PMID: 36515702Free PMC Article
Riccardo M, Angela L, Angela D, Vita P, Giulio L, Pietroq F, Giancarlo I, Marisa M
Curr Pharm Des 2016;22(6):758-63. doi: 10.2174/1381612822666151204001830. PMID: 26648460
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

Recent clinical studies

Etiology

Stavros K
Continuum (Minneap Minn) 2024 Feb 1;30(1):119-132. doi: 10.1212/CON.0000000000001377. PMID: 38330475
Fereshtehnejad SM, Saleh PA, Oliveira LM, Patel N, Bhowmick S, Saranza G, Kalia LV
Neurol Sci 2023 Mar;44(3):947-959. Epub 2022 Nov 28 doi: 10.1007/s10072-022-06516-8. PMID: 36441344Free PMC Article
Hsu SL, Liao YC, Lin KP, Lin PY, Yu KW, Tsai YS, Guo YC, Lee YC
Parkinsonism Relat Disord 2022 Oct;103:144-149. Epub 2022 Sep 16 doi: 10.1016/j.parkreldis.2022.09.001. PMID: 36155026
Perić S, Marković V, Candayan A, De Vriendt E, Momčilović N, Savić A, Dragašević-Mišković N, Svetel M, Stević Z, Božović I, Mesaroš Š, Drulović J, Basta I, Petrović I, Tamaš O, Mijajlović M, Novaković I, Sokić D, Jordanova A
Cells 2022 Sep 8;11(18) doi: 10.3390/cells11182804. PMID: 36139378Free PMC Article
Contino G, Novelli G
Expert Opin Pharmacother 2006 Oct;7(14):1849-56. doi: 10.1517/14656566.7.14.1849. PMID: 17020412

Diagnosis

Stavros K
Continuum (Minneap Minn) 2024 Feb 1;30(1):119-132. doi: 10.1212/CON.0000000000001377. PMID: 38330475
Turski GN, Turski CA, Grobe-Einsler M, Kobeleva X, Turski JS, Holz FG, Finger RP, Klockgether T
Restor Neurol Neurosci 2023;41(5-6):229-239. doi: 10.3233/RNN-231380. PMID: 38217556Free PMC Article
Talbert ML, Malicdan MCV, Introne WJ
Curr Opin Hematol 2023 Jul 1;30(4):144-151. Epub 2023 Apr 25 doi: 10.1097/MOH.0000000000000766. PMID: 37254856Free PMC Article
Perić S, Marković V, Candayan A, De Vriendt E, Momčilović N, Savić A, Dragašević-Mišković N, Svetel M, Stević Z, Božović I, Mesaroš Š, Drulović J, Basta I, Petrović I, Tamaš O, Mijajlović M, Novaković I, Sokić D, Jordanova A
Cells 2022 Sep 8;11(18) doi: 10.3390/cells11182804. PMID: 36139378Free PMC Article
Méreaux JL, Banneau G, Papin M, Coarelli G, Valter R, Raymond L, Kol B, Ariste O, Parodi L, Tissier L, Mairey M, Ait Said S, Gautier C, Guillaud-Bataille M; French SPATAX clinical network, Forlani S, de la Grange P, Brice A, Vazza G, Durr A, Leguern E, Stevanin G
Brain 2022 Apr 29;145(3):1029-1037. doi: 10.1093/brain/awab386. PMID: 34983064

Therapy

Zeigelboim BS, José MR, Santos GJBD, Severiano MIR, Teive HAG, Stechman-Neto J, Santos RS, de Araújo CM, Cavalcante-Leão BL
PLoS One 2021;16(4):e0249095. Epub 2021 Apr 1 doi: 10.1371/journal.pone.0249095. PMID: 33793609Free PMC Article
Marelli C, Lamari F, Rainteau D, Lafourcade A, Banneau G, Humbert L, Monin ML, Petit E, Debs R, Castelnovo G, Ollagnon E, Lavie J, Pilliod J, Coupry I, Babin PJ, Guissart C, Benyounes I, Ullmann U, Lesca G, Thauvin-Robinet C, Labauge P, Odent S, Ewenczyk C, Wolf C, Stevanin G, Hajage D, Durr A, Goizet C, Mochel F
Brain 2018 Jan 1;141(1):72-84. doi: 10.1093/brain/awx297. PMID: 29228183
Züchner S
Expert Opin Pharmacother 2007 Jul;8(10):1433-9. doi: 10.1517/14656566.8.10.1433. PMID: 17661726
Contino G, Novelli G
Expert Opin Pharmacother 2006 Oct;7(14):1849-56. doi: 10.1517/14656566.7.14.1849. PMID: 17020412
Jørgensen LM, Nielsen JE, Ravnborg M
J Neurol Sci 2005 Oct 15;237(1-2):25-9. doi: 10.1016/j.jns.2005.05.002. PMID: 15961111

Prognosis

Sardina F, Valente D, Fattorini G, Cioffi E, Zanna GD, Tessa A, Trisciuoglio D, Soddu S, Santorelli FM, Casali C, Rinaldo C
Eur J Neurol 2023 Jun;30(6):1734-1744. Epub 2023 Mar 26 doi: 10.1111/ene.15756. PMID: 36815539
Méreaux JL, Banneau G, Papin M, Coarelli G, Valter R, Raymond L, Kol B, Ariste O, Parodi L, Tissier L, Mairey M, Ait Said S, Gautier C, Guillaud-Bataille M; French SPATAX clinical network, Forlani S, de la Grange P, Brice A, Vazza G, Durr A, Leguern E, Stevanin G
Brain 2022 Apr 29;145(3):1029-1037. doi: 10.1093/brain/awab386. PMID: 34983064
de Bot ST, Burggraaff RC, Herkert JC, Schelhaas HJ, Post B, Diekstra A, van Vliet RO, van der Knaap MS, Kamsteeg EJ, Scheffer H, van de Warrenburg BP, Verschuuren-Bemelmans CC, Kremer HP
Eur J Hum Genet 2013 Nov;21(11):1312-5. Epub 2013 Feb 27 doi: 10.1038/ejhg.2013.27. PMID: 23443022Free PMC Article
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
Contino G, Novelli G
Expert Opin Pharmacother 2006 Oct;7(14):1849-56. doi: 10.1517/14656566.7.14.1849. PMID: 17020412

Clinical prediction guides

Turski GN, Turski CA, Grobe-Einsler M, Kobeleva X, Turski JS, Holz FG, Finger RP, Klockgether T
Restor Neurol Neurosci 2023;41(5-6):229-239. doi: 10.3233/RNN-231380. PMID: 38217556Free PMC Article
Jacobi H, Weiler M, Sam G, Heiland S, Hayes JM, Bendszus M, Schüle R, Hayes JC
Eur J Neurol 2023 Aug;30(8):2442-2452. Epub 2023 May 26 doi: 10.1111/ene.15841. PMID: 37154411
Laßmann C, Ilg W, Schneider M, Völker M, Haeufle DFB, Schüle R, Giese M, Synofzik M, Schöls L, Rattay TW
Mov Disord 2022 Dec;37(12):2417-2426. Epub 2022 Aug 29 doi: 10.1002/mds.29199. PMID: 36054444
Méreaux JL, Banneau G, Papin M, Coarelli G, Valter R, Raymond L, Kol B, Ariste O, Parodi L, Tissier L, Mairey M, Ait Said S, Gautier C, Guillaud-Bataille M; French SPATAX clinical network, Forlani S, de la Grange P, Brice A, Vazza G, Durr A, Leguern E, Stevanin G
Brain 2022 Apr 29;145(3):1029-1037. doi: 10.1093/brain/awab386. PMID: 34983064
Contino G, Novelli G
Expert Opin Pharmacother 2006 Oct;7(14):1849-56. doi: 10.1517/14656566.7.14.1849. PMID: 17020412

Recent systematic reviews

Fereshtehnejad SM, Saleh PA, Oliveira LM, Patel N, Bhowmick S, Saranza G, Kalia LV
Neurol Sci 2023 Mar;44(3):947-959. Epub 2022 Nov 28 doi: 10.1007/s10072-022-06516-8. PMID: 36441344Free PMC Article

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