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Spastic paraplegia 4, autosomal dominant(SPG4)

MedGen UID:
401097
Concept ID:
C1866855
Disease or Syndrome
Synonyms: Familial spastic paraplegia autosomal dominant 2; Spastic Paraplegia 4; SPG4
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Genetic anticipation
MedGen UID:
109454
Concept ID:
C0600498
Organism Attribute
Source: HPO
A mode of inheritance in which the severity of a disorder increases or the age of onset decreases as the disorder is passed from one generation to the next.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): SPAST (2p22.3)
OMIM®: 182601
Orphanet: ORPHA100985

Definition

Spastic paraplegia 4 (SPG4; also known as SPAST-associated HSP) is characterized by insidiously progressive bilateral lower-limb gait spasticity. More than 50% of affected individuals have some weakness in the legs and impaired vibration sense at the ankles. About one third have sphincter disturbances. Onset is insidious, mostly in young adulthood, although symptoms may start as early as age one year and as late as age 76 years. Intrafamilial variation is considerable. [from OMIM]

Additional descriptions

From GeneReviews
Spastic paraplegia 4 (SPG4; also known asSPAST-associated HSP) is characterized by insidiously progressive bilateral lower-limb gait spasticity. More than 50% of affected individuals have some weakness in the legs and impaired vibration sense at the ankles. About one third have sphincter disturbances. Onset is insidious, mostly in young adulthood, although symptoms may start as early as age one year and as late as age 76 years. Intrafamilial variation is considerable.  https://www.ncbi.nlm.nih.gov/books/NBK1160
From GHR
Spastic paraplegia type 4 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve only the lower limbs, whereas the complex types also involve the upper limbs (to a lesser degree) and the nervous system. Spastic paraplegia type 4 is a pure hereditary spastic paraplegia.Like all hereditary spastic paraplegias, spastic paraplegia type 4 involves spasticity of the leg muscles and muscle weakness. People with this condition can also experience exaggerated reflexes (hyperreflexia), ankle spasms, high-arched feet (pes cavus), and reduced bladder control. Spastic paraplegia type 4 generally affects nerve and muscle function in the lower half of the body only.  https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-4

Clinical features

Aggressive behavior
MedGen UID:
1375
Concept ID:
C0001807
Individual Behavior
Depression
MedGen UID:
4229
Concept ID:
C0011581
Mental or Behavioral Dysfunction
Low back pain
MedGen UID:
7389
Concept ID:
C0024031
Sign or Symptom
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Paraplegia
MedGen UID:
45323
Concept ID:
C0030486
Disease or Syndrome
Babinski sign
MedGen UID:
19708
Concept ID:
C0034935
Finding
Spastic paraplegia
MedGen UID:
20882
Concept ID:
C0037772
Disease or Syndrome
Urinary incontinence
MedGen UID:
22579
Concept ID:
C0042024
Finding
Urinary urgency
MedGen UID:
39315
Concept ID:
C0085606
Finding
Agitation
MedGen UID:
88447
Concept ID:
C0085631
Sign or Symptom
Apathy
MedGen UID:
39083
Concept ID:
C0085632
Mental or Behavioral Dysfunction
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Spastic gait
MedGen UID:
115907
Concept ID:
C0231687
Finding
Memory impairment
MedGen UID:
68579
Concept ID:
C0233794
Mental or Behavioral Dysfunction
Disinhibition
MedGen UID:
140859
Concept ID:
C0424296
Mental or Behavioral Dysfunction
Dementia
MedGen UID:
99229
Concept ID:
C0497327
Mental or Behavioral Dysfunction
Lower limb muscle weakness
MedGen UID:
324478
Concept ID:
C1836296
Finding
Urinary bladder sphincter dysfunction
MedGen UID:
334804
Concept ID:
C1843663
Finding
Degeneration of the lateral corticospinal tracts
MedGen UID:
375921
Concept ID:
C1846566
Finding
Impaired vibration sensation in the lower limbs
MedGen UID:
338617
Concept ID:
C1849134
Finding
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpastic paraplegia 4, autosomal dominant
Follow this link to review classifications for Spastic paraplegia 4, autosomal dominant in Orphanet.

Recent clinical studies

Etiology

Servelhere KR, Faber I, Saute JA, Moscovich M, D'Abreu A, Jardim LB, Teive HA, Lopes-Cendes I, Franca MC Jr
Eur J Neurol 2016 Feb;23(2):408-11. doi: 10.1111/ene.12839. PMID: 26806216
Lindig T, Bender B, Hauser TK, Mang S, Schweikardt D, Klose U, Karle KN, Schüle R, Schöls L, Rattay TW
J Neurol 2015 Aug;262(8):1961-71. Epub 2015 Jun 9 doi: 10.1007/s00415-015-7791-7. PMID: 26050637

Prognosis

Boone PM, Yuan B, Campbell IM, Scull JC, Withers MA, Baggett BC, Beck CR, Shaw CJ, Stankiewicz P, Moretti P, Goodwin WE, Hein N, Fink JK, Seong MW, Seo SH, Park SS, Karbassi ID, Batish SD, Ordóñez-Ugalde A, Quintáns B, Sobrido MJ, Stemmler S, Lupski JR
Am J Hum Genet 2014 Aug 7;95(2):143-61. Epub 2014 Jul 24 doi: 10.1016/j.ajhg.2014.06.014. PMID: 25065914Free PMC Article

Clinical prediction guides

Servelhere KR, Faber I, Saute JA, Moscovich M, D'Abreu A, Jardim LB, Teive HA, Lopes-Cendes I, Franca MC Jr
Eur J Neurol 2016 Feb;23(2):408-11. doi: 10.1111/ene.12839. PMID: 26806216
Boone PM, Yuan B, Campbell IM, Scull JC, Withers MA, Baggett BC, Beck CR, Shaw CJ, Stankiewicz P, Moretti P, Goodwin WE, Hein N, Fink JK, Seong MW, Seo SH, Park SS, Karbassi ID, Batish SD, Ordóñez-Ugalde A, Quintáns B, Sobrido MJ, Stemmler S, Lupski JR
Am J Hum Genet 2014 Aug 7;95(2):143-61. Epub 2014 Jul 24 doi: 10.1016/j.ajhg.2014.06.014. PMID: 25065914Free PMC Article
Miura S, Shibata H, Kida H, Noda K, Toyama T, Iwasaki N, Iwaki A, Ayabe M, Aizawa H, Taniwaki T, Fukumaki Y
Neurogenetics 2011 Feb;12(1):25-31. Epub 2010 Sep 22 doi: 10.1007/s10048-010-0260-7. PMID: 20857310

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