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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
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Genetic anticipation
MedGen UID:
109454
Concept ID:
C0600498
Organism Attribute
Source: HPO
The apparent tendency of certain diseases to appear at earlier AGE OF ONSET and with increasing severity in successive generations. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): SPAST (2p22.3)
OMIM®: 182601
Orphanet: ORPHA100985

Disease characteristics

Excerpted from the GeneReview: Spastic Paraplegia 4
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 GeneReviews]
Authors:
Alexandra Dürr  |  Chantal Tallaksen  |  Christel Depienne   view full author information

Additional descriptions

From OMIM
The hereditary spastic paraplegias (SPG, HSP) are a group of clinically and genetically diverse inherited disorders characterized predominantly by progressive lower extremity spasticity and weakness. SPG is classified by mode of inheritance (autosomal dominant, autosomal recessive, and X-linked) and whether the primary symptoms occur in isolation ('uncomplicated') or with other neurologic abnormalities ('complicated'). Pure SPG4 is the most common form of autosomal dominant hereditary SPG, comprising up to 45% of cases (Svenson et al., 2001; Crippa et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600).  http://www.omim.org/entry/182601
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

Low back pain
MedGen UID:
7389
Concept ID:
C0024031
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Lower extremity weakness
MedGen UID:
324478
Concept ID:
C1836296
Sign or Symptom
A disorder characterized by a reduction in the strength of the lower limb muscles.
Degeneration of the lateral corticospinal tracts
MedGen UID:
375921
Concept ID:
C1846566
Finding
Deterioration of the tissues of the lateral corticospinal tracts.
Lower extremity weakness
MedGen UID:
324478
Concept ID:
C1836296
Sign or Symptom
A disorder characterized by a reduction in the strength of the lower limb muscles.

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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