FSP2
MCID: SPS091
MIFTS: 29

Spastic Paraplegia 4 (FSP2)

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Spastic Paraplegia 4

MalaCards integrated aliases for Spastic Paraplegia 4:

Name: Spastic Paraplegia 4 24 53 25
Spg4 24 53 25
Spastic Paraplegia Type 4 25 73
Familial Spastic Paraplegia Autosomal Dominant 2 53
Hereditary Spastic Paraplegia, Spastin Type 24
Spastic Paraplegia 4, Autosomal Dominant 73
Autosomal Dominant Spastic Paraplegia 4 53
Spast-Associated Hsp 24
Fsp2 53

Characteristics:

GeneReviews:

24
Penetrance Penetrance is age dependent and incomplete even in older individuals who have a spast pathogenic variant. it is estimated to be 85% by age 45 years [fonknechten et al 2000]. using data from a series of individuals with spast variants diagnosed in paris, the calculated penetrance is approximately 50% at age 27 years and 80% at 50 years [author, personal observation]. age dependence is explained partly by variability in age at onset and partly by difficulty in determining with precision the age of onset when it is insidious...

Classifications:



External Ids:

Summaries for Spastic Paraplegia 4

NIH Rare Diseases : 53 Spastic paraplegia 4 (SPG4) is the most common type of hereditary spastic paraplegia (HSP) inherited in an autosomal dominant manner. Disease onset ranges from infancy to older adulthood. SPG4 is characterized by slowly progressive muscle weakness and spasticity (stiff or rigid muscles) in the lower half of the body. In rare cases, individuals may have a more complex form with seizures, ataxia, and dementia. SPG4 is caused by mutations in the SPAST gene. Severity of symptoms usually worsens over time, however some individuals remain mildly affected throughout their lives. Medications, such as antispastic drugs and physical therapy may aid in stretching spastic muscles and preventing contractures (fixed tightening of muscles).

MalaCards based summary : Spastic Paraplegia 4, also known as spg4, is related to spastic paraplegia 4, autosomal dominant and hereditary spastic paraplegia, and has symptoms including abnormal pyramidal signs, agitation and low back pain. An important gene associated with Spastic Paraplegia 4 is SPAST (Spastin). Affiliated tissues include skin, bone and eye.

Genetics Home Reference : 25 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.

GeneReviews: NBK1160

Related Diseases for Spastic Paraplegia 4

Diseases in the Spastic Paraplegia 3a family:

Spastic Paraplegia 3, Autosomal Dominant Spastic Paraplegia 4, Autosomal Dominant
Spastic Paraplegia 17, Autosomal Dominant Spastic Paraplegia 15, Autosomal Recessive
Spastic Paraplegia 23 Spastic Paraplegia 5a, Autosomal Recessive
Spastic Paraplegia 20, Autosomal Recessive Spastic Paraplegia 6, Autosomal Dominant
Spastic Paraplegia 9a, Autosomal Dominant Spastic Paraplegia 8, Autosomal Dominant
Spastic Paraplegia 10, Autosomal Dominant Spastic Paraplegia 11, Autosomal Recessive
Spastic Paraplegia 12, Autosomal Dominant Spastic Paraplegia 14, Autosomal Recessive
Spastic Paraplegia 13, Autosomal Dominant Spastic Paraplegia 19, Autosomal Dominant
Spastic Paraplegia 7, Autosomal Recessive Spastic Paraplegia 24, Autosomal Recessive
Spastic Paraplegia 25, Autosomal Recessive Spastic Paraplegia 27, Autosomal Recessive
Spastic Paraplegia 26, Autosomal Recessive Spastic Paraplegia 28, Autosomal Recessive
Spastic Paraplegia 29, Autosomal Dominant Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 31, Autosomal Dominant Spastic Paraplegia 30, Autosomal Recessive
Spastic Paraplegia 18, Autosomal Recessive Spastic Paraplegia 32, Autosomal Recessive
Spastic Paraplegia 37, Autosomal Dominant Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 35, Autosomal Recessive Spastic Paraplegia 38, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant Spastic Paraplegia 50, Autosomal Recessive
Spastic Paraplegia 36, Autosomal Dominant Spastic Paraplegia 45, Autosomal Recessive
Spastic Paraplegia 44, Autosomal Recessive Spastic Paraplegia 41, Autosomal Dominant
Spastic Paraplegia 48, Autosomal Recessive Spastic Paraplegia 51, Autosomal Recessive
Spastic Paraplegia 47, Autosomal Recessive Spastic Paraplegia 52, Autosomal Recessive
Spastic Paraplegia 46, Autosomal Recessive Spastic Paraplegia 53, Autosomal Recessive
Spastic Paraplegia 56, Autosomal Recessive Spastic Paraplegia 49, Autosomal Recessive
Spastic Paraplegia 54, Autosomal Recessive Spastic Paraplegia 55, Autosomal Recessive
Spastic Paraplegia 43, Autosomal Recessive Spastic Paraplegia 79, Autosomal Recessive
Spastic Paraplegia 72, Autosomal Recessive Spastic Paraplegia 57, Autosomal Recessive
Spastic Paraplegia 62, Autosomal Recessive Spastic Paraplegia 64, Autosomal Recessive
Spastic Paraplegia 61, Autosomal Recessive Spastic Paraplegia 63, Autosomal Recessive
Spastic Paraplegia 73, Autosomal Dominant Spastic Paraplegia 74, Autosomal Recessive
Spastic Paraplegia 9b, Autosomal Recessive Spastic Paraplegia 75, Autosomal Recessive
Spastic Paraplegia 76, Autosomal Recessive Spastic Paraplegia 77, Autosomal Recessive
Spastic Paraplegia 78, Autosomal Recessive Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia 51 Hereditary Spastic Paraplegia 72
Spastic Paraplegia 4 Spastic Paraplegia 8
Spastic Paraplegia 11 Spastic Paraplegia 1
Spastic Paraplegia 10 Spastic Paraplegia 12
Spastic Paraplegia 13 Spastic Paraplegia 14
Spastic Paraplegia 15 Spastic Paraplegia 16
Spastic Paraplegia 17 Spastic Paraplegia 18
Spastic Paraplegia 19 Spastic Paraplegia 24
Spastic Paraplegia 25 Spastic Paraplegia 26
Spastic Paraplegia 29 Spastic Paraplegia 3
Spastic Paraplegia 31 Spastic Paraplegia 32
Spastic Paraplegia 39 Spastic Paraplegia 51
Spastic Paraplegia 5a Spastic Paraplegia 5b
Spastic Paraplegia 6 Spastic Paraplegia 9
Spastic Paraplegia Type 49 Autosomal Recessive Spastic Paraplegia Type 60
Autosomal Recessive Spastic Paraplegia Type 59 Autosomal Recessive Spastic Paraplegia Type 68
Autosomal Recessive Spastic Paraplegia Type 69 Autosomal Recessive Spastic Paraplegia Type 70
Autosomal Recessive Spastic Paraplegia Type 71 Autosomal Recessive Spastic Paraplegia Type 66
Autosomal Recessive Spastic Paraplegia Type 67 Autosomal Dominant Spastic Paraplegia Type 9b
Autosomal Dominant Spastic Paraplegia Type 9

Diseases related to Spastic Paraplegia 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 4, autosomal dominant 12.6
2 hereditary spastic paraplegia 10.7
3 spastic paraparesis 10.3
4 spastic paraplegia 17, autosomal dominant 10.1
5 spastic paraplegia 10 10.1
6 paraplegia 10.0
7 machado-joseph disease 9.9
8 multiple sclerosis 9.9
9 cognitive function 1, social 9.9
10 aceruloplasminemia 9.9
11 dementia 9.9
12 epilepsy 9.9
13 peripheral nervous system disease 9.9
14 neuropathy 9.9
15 arachnoid cysts 9.9

Graphical network of the top 20 diseases related to Spastic Paraplegia 4:



Diseases related to Spastic Paraplegia 4

Symptoms & Phenotypes for Spastic Paraplegia 4

UMLS symptoms related to Spastic Paraplegia 4:


abnormal pyramidal signs, agitation, low back pain, urgency of micturition

Drugs & Therapeutics for Spastic Paraplegia 4

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 4

Genetic Tests for Spastic Paraplegia 4

Anatomical Context for Spastic Paraplegia 4

MalaCards organs/tissues related to Spastic Paraplegia 4:

41
Skin, Bone, Eye

Publications for Spastic Paraplegia 4

Articles related to Spastic Paraplegia 4:

(show all 14)
# Title Authors Year
1
Erratum to: The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia. ( 26837615 )
2016
2
Multimodal MRI-based study in patients with SPG4 mutations. ( 25658484 )
2015
3
Spin labeling artery method perfusion MRI study of SPG4 and SCA3/MJD. ( 25172988 )
2014
4
SPG4 gene promoter regulation via Elk1 transcription factor. ( 21395583 )
2011
5
There might be more to SPG4! ( 19289473 )
2009
6
Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant. ( 19694023 )
2009
7
Gene symbol: SPAST (SPG4). Disease: Spastic paraparesis. Accession #Hm0552. ( 17297708 )
2006
8
Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection. ( 15164410 )
2004
9
Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation. ( 15667412 )
2004
10
Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus. ( 12490534 )
2003
11
Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia. ( 12124993 )
2002
12
Isolation of CAG/CTG repeats from within the chromosome 2p21-p24 locus for autosomal dominant spastic paraplegia (SPG4) by YAC fragmentation. ( 10987648 )
1999
13
Transcript map of the chromosome 2-linked autosomal dominant spastic paraplegia (SPG4) critical region and identification of a highly informative STRP. ( 9933304 )
1998
14
Spastic Paraplegia 4 ( 20301339 )
1993

Variations for Spastic Paraplegia 4

Expression for Spastic Paraplegia 4

Search GEO for disease gene expression data for Spastic Paraplegia 4.

Pathways for Spastic Paraplegia 4

GO Terms for Spastic Paraplegia 4

Sources for Spastic Paraplegia 4

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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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