MCID: SPS091
MIFTS: 31

Spastic Paraplegia 4

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 25 54 26
Spg4 25 54 26
Spastic Paraplegia Type 4 26 74
Familial Spastic Paraplegia Autosomal Dominant 2 54
Hereditary Spastic Paraplegia, Spastin Type 25
Spastic Paraplegia 4, Autosomal Dominant 74
Autosomal Dominant Spastic Paraplegia 4 54
Spast-Associated Hsp 25
Fsp2 54

Characteristics:

GeneReviews:

25
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 : 54 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 paraplegia, and has symptoms including agitation, low back pain and urgency of micturition. An important gene associated with Spastic Paraplegia 4 is SPAST (Spastin). Affiliated tissues include skin, bone and eye.

Genetics Home Reference : 26 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, Autosomal Recessive 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 Spastic Paraplegia 80, Autosomal Dominant
Hereditary Spastic Paraplegia Hereditary Spastic Paraplegia 23
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 47
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 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

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

(show all 17)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 4, autosomal dominant 12.6
2 paraplegia 10.8
3 hereditary spastic paraplegia 10.8
4 spastic paraplegia 3, autosomal dominant 10.4
5 spastic paraplegia 3a 10.4
6 spastic paraparesis 10.4
7 spastic paraplegia 17, autosomal dominant 10.1
8 spastic paraplegia 10 10.1
9 machado-joseph disease 10.0
10 multiple sclerosis 10.0
11 cognitive function 1, social 10.0
12 aceruloplasminemia 10.0
13 dementia 10.0
14 epilepsy 10.0
15 peripheral nervous system disease 10.0
16 neuropathy 10.0
17 arachnoid cysts 10.0

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:


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

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:

42
Skin, Bone, Eye

Publications for Spastic Paraplegia 4

Articles related to Spastic Paraplegia 4:

(show top 50) (show all 94)
# Title Authors Year
1
Autonomic dysfunction in hereditary spastic paraplegia type 4. ( 30489674 )
2019
2
MiR-33a is a therapeutic target in SPG4-related hereditary spastic paraplegia human neurons. ( 30777884 )
2019
3
Pure or Complex Hereditary Spastic Paraplegia Type 4? ( 30877703 )
2019
4
Re: Comments on "Pure or Complex Hereditary Spastic Paraplegia Type 4?": The Authors Respond. ( 30938112 )
2019
5
Resting state fMRI studies in SPG4-linked hereditary spastic paraplegia. ( 29249364 )
2018
6
Identification of a novel SPG4 tandem base substitution in a Chinese hereditary spastic paraplegia family. ( 27942873 )
2017
7
Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability. ( 28870597 )
2017
8
Non-motor symptoms in patients with hereditary spastic paraplegia caused by SPG4 mutations. ( 26806216 )
2016
9
Erratum to: The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia. ( 26837615 )
2016
10
Cognitive Impairment Involving Social Cognition in SPG4 Hereditary Spastic Paraplegia. ( 27688599 )
2016
11
Gray and white matter alterations in hereditary spastic paraplegia type SPG4 and clinical correlations. ( 26050637 )
2015
12
Hereditary spastic paraplegia SPG4: what is known and not known about the disease. ( 26094131 )
2015
13
Multimodal MRI-based study in patients with SPG4 mutations. ( 25658484 )
2015
14
Diffusion tensor imaging in SPG11- and SPG4-linked hereditary spastic paraplegia. ( 23968121 )
2014
15
SPG4-related hereditary spastic paraplegia: frequency and mutation spectrum in Brazil. ( 24033003 )
2014
16
Novel splice site mutation of SPG4 in a Chinese family with hereditary spastic paraplegia. ( 24659419 )
2014
17
High frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia. ( 25421405 )
2014
18
Genetic analysis of SPG4 and SPG3A genes in a cohort of Chinese patients with hereditary spastic paraplegia. ( 25454648 )
2014
19
Novel SPAST deletion and reduced DPY30 expression in a Spastic Paraplegia type 4 kindred. ( 24690193 )
2014
20
Spin labeling artery method perfusion MRI study of SPG4 and SCA3/MJD. ( 25172988 )
2014
21
Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons. ( 24381312 )
2014
22
The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia. ( 23238845 )
2013
23
Screening for the hereditary spastic paraplaegias SPG4 and SPG3A with the multiplex ligation-dependent probe amplification technique in a large population of affected individuals. ( 22203332 )
2013
24
Peripheral neuropathy in hereditary spastic paraplegia due to spastin (SPG4) mutation--a neurophysiological study using excitability techniques. ( 22192498 )
2012
25
Novel and recurrent spastin mutations in a large series of SPG4 Italian families. ( 22960362 )
2012
26
Partial SPAST and DPY30 deletions in a Japanese spastic paraplegia type 4 family. ( 20857310 )
2011
27
SPG4 gene promoter regulation via Elk1 transcription factor. ( 21395583 )
2011
28
A novel splicing mutation (c.870+3A>G) in SPG4 in a Korean family with hereditary spastic paraplegia. ( 19939411 )
2010
29
Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegia. ( 20430936 )
2010
30
Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia. ( 20932283 )
2010
31
Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia. ( 19875132 )
2010
32
[Hereditary spastic paraplegia type 4 (SPG4): clinical and molecular-genetic characteristics]. ( 20559269 )
2010
33
Dementia in SPG4 hereditary spastic paraplegia: clinical, genetic, and neuropathologic evidence. ( 19652142 )
2009
34
The prevalence of hereditary spastic paraplegia and the occurrence of SPG4 mutations in Estonia. ( 19039240 )
2009
35
Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant. ( 19694022 )
2009
36
Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant. ( 19694023 )
2009
37
Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families. ( 18664244 )
2009
38
There might be more to SPG4! ( 19289473 )
2009
39
Novel SPG3A and SPG4 mutations in two patients with Silver syndrome. ( 19730024 )
2009
40
Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia. ( 18190593 )
2008
41
Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4. ( 18401025 )
2008
42
Mental deficiency in three families with SPG4 spastic paraplegia. ( 17957230 )
2008
43
Spastic paraplegia in Romania: high prevalence of SPG4 mutations. ( 17971434 )
2008
44
A cryptic promoter in the first exon of the SPG4 gene directs the synthesis of the 60-kDa spastin isoform. ( 18613979 )
2008
45
Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia. ( 17098887 )
2007
46
Double-blind crossover trial of gabapentin in SPG4-linked hereditary spastic paraplegia. ( 17539946 )
2007
47
Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia. ( 17594340 )
2007
48
Possible anticipation in hereditary spastic paraplegia type 4 (SPG4). ( 17598599 )
2007
49
SPG4 founder effect in French Canadians with hereditary spastic paraplegia. ( 17598600 )
2007
50
An SPG3A whole gene deletion neither co-segregates with disease nor modifies phenotype in a hereditary spastic paraplegia family with a pathogenic SPG4 deletion. ( 17657515 )
2007

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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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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