FSP2
MCID: SPS091
MIFTS: 27

Spastic Paraplegia 4 (FSP2)

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

Aliases & Classifications for Spastic Paraplegia 4

MalaCards integrated aliases for Spastic Paraplegia 4:

Name: Spastic Paraplegia 4 25 20 43
Spg4 25 20 43
Spastic Paraplegia Type 4 43 70
Familial Spastic Paraplegia Autosomal Dominant 2 20
Spastic Paraplegia 4, Autosomal Dominant 70
Autosomal Dominant Spastic Paraplegia 4 20
Spast-Hsp 25
Fsp2 20

Characteristics:

GeneReviews:

25
Penetrance Penetrance is age dependent and mostly complete in individuals with spast-hsp. it is estimated to be 85% by age 45 years [fonknechten et al 2000] and complete at 70 years [parodi et al 2018]. it should be emphasized that age dependence is explained partly by variability in age at onset and partly by the difficulty in determining the precise age of onset; thus, neurologic examination is important. penetrance is greater if pyramidal signs as well as spastic gait are considered: approximately 6% of individuals who have a spast variant are completely asymptomatic on examination; approximately 20% have abnormal signs when examined, but no awareness of being affected....

Classifications:



External Ids:

UMLS 70 C1866855 C3711371

Summaries for Spastic Paraplegia 4

MedlinePlus Genetics : 43 Spastic paraplegia type 4 (also known as SPG4) is the most common of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) in the legs and difficulty walking. Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types generally involve only spasticity of the lower limbs and walking difficulties. The complex types involve more widespread problems with the nervous system; the structure or functioning of the brain; and the nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system). In complex forms, there can also be features outside of the nervous system. Spastic paraplegia type 4 is usually a pure hereditary spastic paraplegia, although a few complex cases have been reported.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.

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 agitation, low back pain and urgency of micturition. An important gene associated with Spastic Paraplegia 4 is SPAST (Spastin). Affiliated tissues include spinal cord.

GARD : 20 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).

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 Dominant
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
Spastic Paraplegia 81, Autosomal Recessive Spastic Paraplegia 82, Autosomal Recessive
Spastic Paraplegia 83, Autosomal Recessive Hereditary Spastic Paraplegia 23
Hereditary Spastic Paraplegia 30 Hereditary Spastic Paraplegia 51
Hereditary Spastic Paraplegia 72 Hereditary Spastic Paraplegia
Spastic Paraplegia 4 Spastic Paraplegia 8
Spastic Paraplegia 11 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 32
Spastic Paraplegia 39 Spastic Paraplegia 47
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 top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 4, autosomal dominant 11.8
2 hereditary spastic paraplegia 10.8
3 spastic paraparesis 10.4
4 spastic paraplegia 3, autosomal dominant 10.3
5 spastic paraplegia 3a 10.3
6 pure or complex hereditary spastic paraplegia 10.2
7 complex hereditary spastic paraplegia 10.2
8 ataxia and polyneuropathy, adult-onset 10.2
9 spastic paraplegia 6, autosomal dominant 10.1
10 epilepsy 10.1
11 spastic paraplegia 6 10.1
12 pure hereditary spastic paraplegia 10.1
13 peripheral nervous system disease 10.0
14 neuropathy 10.0
15 scoliosis 10.0
16 narcolepsy 10.0
17 autonomic dysfunction 10.0
18 paraplegia 10.0
19 spasticity 10.0
20 machado-joseph disease 10.0
21 polyneuropathy 10.0
22 autosomal dominant cerebellar ataxia 10.0
23 constipation 10.0
24 spastic paraplegia 3 10.0
25 amyotrophic lateral sclerosis 1 9.8
26 candidiasis, familial, 1 9.8
27 multiple sclerosis 9.8
28 hand skill, relative 9.8
29 migraine with or without aura 1 9.8
30 arachnoid cysts, intracranial 9.8
31 muscular dystrophy, scapulohumeral 9.8
32 spastic paraplegia 10, autosomal dominant 9.8
33 spastic paraplegia 11, autosomal recessive 9.8
34 spastic paraplegia 13, autosomal dominant 9.8
35 spastic paraplegia 31, autosomal dominant 9.8
36 spastic paraplegia 38, autosomal dominant 9.8
37 disease by infectious agent 9.8
38 restless legs syndrome 9.8
39 primary progressive multiple sclerosis 9.8
40 sexual disorder 9.8
41 urinary tract infection 9.8
42 mild cognitive impairment 9.8
43 neurogenic bladder 9.8
44 dementia 9.8
45 acute cystitis 9.8
46 endogenous depression 9.8
47 spondylosis 9.8
48 lateral sclerosis 9.8
49 motor neuron disease 9.8
50 relapsing-remitting multiple sclerosis 9.8

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Studying Non-motor Symptoms in Patients With Hereditary Spastic Paraplegia (HSP) Compared to Healthy Controls Completed NCT03204773
2 Studying Cognition in SPG4 Compared to Healthy Controls Completed NCT03104088
3 Studying the Presymptomatic and Early Phase of SPG4 Recruiting NCT03206190
4 Disease Natural History and Biomarkers of SPG3A, SPG4 and SPG31 Terminated NCT02859428

Search 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:

40
Spinal Cord

Publications for Spastic Paraplegia 4

Articles related to Spastic Paraplegia 4:

(show top 50) (show all 314)
# Title Authors PMID Year
1
Mutations in the SPAST gene causing hereditary spastic paraplegia are related to global topological alterations in brain functional networks. 61 25
30737580 2019
2
Urinary symptoms, quality of life, and patient satisfaction in genetic and sporadic hereditary spastic paraplegia. 25 61
30467602 2019
3
Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex. 25 61
30476002 2018
4
Botulinum toxin for hereditary spastic paraplegia: effects on motor and non-motor manifestations. 61 25
29809239 2018
5
Resting state fMRI studies in SPG4-linked hereditary spastic paraplegia. 25 61
29249364 2018
6
Clinical and genetic study of hereditary spastic paraplegia in Canada. 25 61
27957547 2017
7
A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings. 25 61
27260292 2016
8
Non-motor symptoms in patients with hereditary spastic paraplegia caused by SPG4 mutations. 61 25
26806216 2016
9
Cognitive Impairment Involving Social Cognition in SPG4 Hereditary Spastic Paraplegia. 25 61
27688599 2016
10
Gray and white matter alterations in hereditary spastic paraplegia type SPG4 and clinical correlations. 25 61
26050637 2015
11
Multimodal MRI-based study in patients with SPG4 mutations. 61 25
25658484 2015
12
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. 61 25
24603320 2014
13
Pathogenic mutation of spastin has gain-of-function effects on microtubule dynamics. 25 61
24478365 2014
14
Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP). 61 25
24107482 2013
15
Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey. 61 25
23400676 2013
16
Peripheral neuropathy in hereditary spastic paraplegia due to spastin (SPG4) mutation--a neurophysiological study using excitability techniques. 61 25
22192498 2012
17
Two novel mutations in the Spastin gene of Chinese patients with hereditary spastic paraplegia. 25 61
21834905 2011
18
[Japan spastic paraplegia research consortium (JASPAC)]. 25 61
21921516 2010
19
Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations. 61 25
20562464 2010
20
Specific pattern of early white-matter changes in pure hereditary spastic paraplegia. 25 61
20669295 2010
21
Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegia. 61 25
20430936 2010
22
Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network. 61 25
20200447 2010
23
Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia. 61 25
19423133 2009
24
Dementia in SPG4 hereditary spastic paraplegia: clinical, genetic, and neuropathologic evidence. 61 25
19652142 2009
25
Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study. 61 25
19339254 2009
26
Proton magnetic resonance spectroscopy and cognition in patients with spastin mutations. 61 25
19084842 2009
27
Hereditary spastic paraplegias: an update. 25 61
17992088 2007
28
Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegia. 25 61
17916079 2007
29
Double-blind crossover trial of gabapentin in SPG4-linked hereditary spastic paraplegia. 61 25
17539946 2007
30
Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia. 25 61
17098887 2007
31
High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia. 61 25
17035675 2006
32
Clinical features of hereditary spastic paraplegia due to spastin mutation. 25 61
16832076 2006
33
Spastin subcellular localization is regulated through usage of different translation start sites and active export from the nucleus. 25 61
16026783 2005
34
Early-onset ALS with long-term survival associated with spastin gene mutation. 61 25
16009903 2005
35
Hereditary spastic paraplegia: clinical genetic study of 15 families. 25 61
15210521 2004
36
Subtle cognitive impairment but no dementia in patients with spastin mutations. 61 25
12925368 2003
37
Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia. 25 61
11985387 2002
38
Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. 25 61
11809724 2002
39
Hereditary spastic paraplegia caused by mutations in the SPG4 gene. 61 25
11039577 2000
40
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. 61 25
10699187 2000
41
Hereditary spastic paraplegia: gain-of-function mechanisms revealed by new transgenic mouse. 25
30520996 2019
42
Urological dysfunction in patients with hereditary spastic paraplegia. 25
30848841 2019
43
Gastrointestinal and urinary complaints in adults with hereditary spastic paraparesis. 25
29661209 2018
44
Neuroimaging in Hereditary Spastic Paraplegias: Current Use and Future Perspectives. 25
30713518 2018
45
Hereditary spastic paraplegia: More than an upper motor neuron disease. 25
28449883 2017
46
Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force. 25
27079681 2016
47
Timing, rates and spectra of human germline mutation. 25
26656846 2016
48
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25
25741868 2015
49
Spastin binds to lipid droplets and affects lipid metabolism. 25
25875445 2015
50
Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms. 25
24954637 2014

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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