MCID: HRD010
MIFTS: 62

Hereditary Spastic Paraplegia malady

Genetic diseases, Rare diseases, Neuronal diseases, Gastrointestinal diseases, Bone diseases, Metabolic diseases, Eye diseases, Mental diseases categories

Summaries for Hereditary Spastic Paraplegia

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NINDS:42 Hereditary spastic paraplegia (HSP), also called familial spastic paraparesis (FSP), refers to a group of inherited disorders that are characterized by progressive weakness and spasticity (stiffness) of the legs. Early in the disease course, there may be mild gait difficulties and stiffness. These symptoms typically slowly progress so that eventually individuals with HSP may require the assistance of a cane, walker, or wheelchair. Though the primary features of "pure" HSP are progressive lower limb spasticity and weakness, complicated forms may be accompanied by other symptoms. These additional impaired vision due to cataracts and problems with the optic nerve and retina of the eye, ataxia (lack of muscle coordination), epilepsy, cognitive impairment, peripheral neuropathy, and deafness. The diagnosis of HSP is primarily by neurological examination and testing to rule out other disorders. Brain MRI abnormalities, such as a thin corpus callosum, may be seen in some of the complicated forms of HSP.

MalaCards based summary: Hereditary Spastic Paraplegia, also known as spastic paraplegia hereditary, is related to spastic paraplegia 3a and paraplegia, and has symptoms including hypertonia, gait disturbance and hemiplegia/hemiparesis. An important gene associated with Hereditary Spastic Paraplegia is KIAA0196 (KIAA0196). Affiliated tissues include skeletal muscle, brain and spinal cord, and related mouse phenotype behavior/neurological.

Disease Ontology:9 A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.

NIH Rare Diseases:41 Hereditary spastic paraplegia is a group of hereditary, degenerative, neurological disorders that primarily affect the upper motor neurons. upper motor neurons in the brain and spinal cord deliver signals to the lower motor neurons which in turn, carry messages to the muscles. in hereditary spastic paraplegia, upper motor neurons slowly degenerate so the muscles do not receive the correct messages causing progressive spasticity (increased muscle tone/stiffness) and weakness of the legs leading to difficulty walking.  as degeneration continues, symptoms worsen.  last updated: 1/31/2013

Wikipedia:63 Hereditary spastic paraplegia (HSP), also known as hereditary spastic paraparesis, familial spastic... more...

GeneReviews summary for hsp

Aliases & Classifications for Hereditary Spastic Paraplegia

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Hereditary Spastic Paraplegia, Aliases & Descriptions:

Name: Hereditary Spastic Paraplegia 30 9 19 41 20 42
Spastic Paraplegia Hereditary 43 22
Familial Spastic Paraplegia 9 19
Hereditary Spastic Paraparesis 19
Spastic Paraplegia, Hereditary 60
 
Familial Spastic Paraparesis 41
Strumpell-Lorrain Syndrome 19
Hsmn V 9
Hsp 41
Fsp 41


Classifications:



External Ids:

Disease Ontology9 DOID:2476
ICD9CM27 334.1
ICD1025 G11.4

Related Diseases for Hereditary Spastic Paraplegia

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Diseases in the Spastic Paraplegia 3a family:

Spastic Paraplegia 29, Autosomal Dominant Spastic Paraplegia 47, Autosomal Recessive
Spastic Paraplegia 44, Autosomal Recessive Spastic Paraplegia 4, Autosomal Dominant
Spastic Paraplegia 31, Autosomal Dominant Spastic Paraplegia 13, Autosomal Dominant
Spastic Paraplegia 30, Autosomal Recessive Spastic Paraplegia 57, Autosomal Recessive
Spastic Paraplegia 42, Autosomal Dominant Spastic Paraplegia 14, Autosomal Recessive
Spastic Paraplegia 38, Autosomal Dominant Spastic Paraplegia 56, Autosomal Recessive
Spastic Paraplegia 72, Autosomal Recessive Spastic Paraplegia 25, Autosomal Recessive
Spastic Paraplegia 48, Autosomal Recessive Spastic Paraplegia 50, Autosomal Recessive
Spastic Paraplegia 53, Autosomal Recessive Spastic Paraplegia 37, Autosomal Dominant
Spastic Paraplegia 54, Autosomal Recessive Spastic Paraplegia 18, Autosomal Recessive
Spastic Paraplegia 5a, Autosomal Recessive Spastic Paraplegia 8, Autosomal Dominant
Spastic Paraplegia 46, Autosomal Recessive Spastic Paraplegia 19, Autosomal Dominant
Spastic Paraplegia 27, Autosomal Recessive Spastic Paraplegia 9, Autosomal Dominant
Spastic Paraplegia 33, Autosomal Dominant Spastic Paraplegia 41, Autosomal Dominant
Spastic Paraplegia 26, Autosomal Recessive Spastic Paraplegia 10, Autosomal Dominant
Spastic Paraplegia 36, Autosomal Dominant Spastic Paraplegia 55, Autosomal Recessive
Spastic Paraplegia 24, Autosomal Recessive Spastic Paraplegia 52, Autosomal Recessive
Spastic Paraplegia 32, Autosomal Recessive Spastic Paraplegia 28, Autosomal Recessive
Spastic Paraplegia 15, Autosomal Recessive Spastic Paraplegia 49, Autosomal Recessive
Spastic Paraplegia 6, Autosomal Dominant Spastic Paraplegia 11, Autosomal Recessive
Spastic Paraplegia 51, Autosomal Recessive Spastic Paraplegia 61, Autosomal Recessive
Spastic Paraplegia 35, Autosomal Recessive Spastic Paraplegia 7, Autosomal Recessive
Spastic Paraplegia 39, Autosomal Recessive Spastic Paraplegia 43, Autosomal Recessive
Spastic Paraplegia 12, Autosomal Dominant Spastic Paraplegia 63
Spastic Paraplegia 64 Spastic Paraplegia 45
Spastic Paraplegia 3a, Autosomal Dominant hereditary spastic paraplegia
Spastic Paraplegia 4 Spastic Paraplegia 7
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 2 Spastic Paraplegia 23
Spastic Paraplegia 24 Spastic Paraplegia 25
Spastic Paraplegia 26 Spastic Paraplegia 29
Spastic Paraplegia 3 Spastic Paraplegia 31
Spastic Paraplegia 39 Spastic Paraplegia 51
Spastic Paraplegia 5a Spastic Paraplegia 5b
Spastic Paraplegia 6 Spastic Paraplegia 9
Spastic Paraplegia 33 Spastic Paraplegia 42
Spastic Paraplegia 30 Spastic Paraplegia 48
Spastic Paraplegia 35 Spastic Paraplegia 44
Autosomal Recessive Spastic Paraplegia Type 62 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 Recessive Spastic Paraplegia Type 58

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

(show top 50)    (show all 214)
idRelated DiseaseScoreTop Affiliating Genes
1spastic paraplegia 3a30.8ATL1, SPAST
2paraplegia30.1SPG7, SPG11, SPAST, ATL1, AFG3L2, ZFYVE27
3spasticity11.5
4troyer syndrome10.7
5neuropathy10.7
6spastic paraplegia 710.7
7spastic paraplegia 1110.7
8ataxia10.6
9lateral sclerosis10.5
10neuronitis10.5
11spastic paraplegia 410.5
12spastic paraplegia 810.5
13masa syndrome10.5
14cerebritis10.5
15dementia10.5
16spastic paraplegia 1710.5
17spastic paraplegia 210.5
18mast syndrome10.4
19hereditary ataxia10.4
20axonal neuropathy10.4
21peripheral neuropathy10.4
22spastic paraplegia 1510.4
23spg11-related hereditary spastic paraplegia with thin corpus callosum10.4
24familial spastic paralysis10.4
25machado-joseph disease10.3
26hypobetalipoproteinemia10.3
27cataract10.3
28motor neuron disease10.3
29spastic diplegia10.3
30mental retardation10.3
31amyotrophic lateral sclerosis 110.3SPAST
32leukemia10.3
33microcephaly10.2
34addison's disease10.2
35restless legs syndrome10.2
36muscular dystrophy10.2
37xanthomatosis10.2
38adrenomyeloneuropathy10.2
39tremor10.2
40colorectal cancer10.2
41arthritis10.2
42henoch-schoenlein purpura10.2
43ischemia10.2
44purpura10.2
45spastic paraplegia 44, autosomal recessive10.2
46spastic paraplegia 4, autosomal dominant10.2
47spastic ataxia 3, autosomal recessive10.2
48spastic paraplegia 30, autosomal recessive10.2
49spastic paraplegia 42, autosomal dominant10.2
50huntington disease10.2

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



Diseases related to hereditary spastic paraplegia

Symptoms for Hereditary Spastic Paraplegia

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HPO human phenotypes related to Hereditary Spastic Paraplegia:

(show all 6)
id Description Frequency HPO Source Accession
1 hypertonia hallmark (90%) HP:0001276
2 gait disturbance hallmark (90%) HP:0001288
3 hemiplegia/hemiparesis hallmark (90%) HP:0004374
4 impaired pain sensation hallmark (90%) HP:0007328
5 incoordination typical (50%) HP:0002311
6 finger syndactyly occasional (7.5%) HP:0006101

Drugs & Therapeutics for Hereditary Spastic Paraplegia

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Drug clinical trials:

Search ClinicalTrials for Hereditary Spastic Paraplegia

Search NIH Clinical Center for Hereditary Spastic Paraplegia

Genetic Tests for Hereditary Spastic Paraplegia

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Genetic tests related to Hereditary Spastic Paraplegia:

id Genetic test Affiliating Genes
1 Hereditary Spastic Paraplegia20 22

Anatomical Context for Hereditary Spastic Paraplegia

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MalaCards organs/tissues related to Hereditary Spastic Paraplegia:

31
Skeletal muscle, Brain, Spinal cord, Testes, Eye, Retina, Myeloid, Monocytes, Cerebellum

Animal Models for Hereditary Spastic Paraplegia or affiliated genes

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MGI Mouse Phenotypes related to Hereditary Spastic Paraplegia:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.2KIF5A, AFG3L2, ATL1, SPAST, SPG7

Publications for Hereditary Spastic Paraplegia

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Articles related to Hereditary Spastic Paraplegia:

(show top 50)    (show all 443)
idTitleAuthorsYear
1
Hereditary Spastic Paraplegia: Beyond Clinical Phenotypes toward a Unified Pattern of Central Nervous System Damage. (25611737)
2015
2
SPG11 mutation in a Turkish familial hypobetalipoproteinemia family with hereditary spastic paraplegia. (25769290)
2015
3
A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother. (25315759)
2014
4
Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia. (24824479)
2014
5
Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients. (23443022)
2013
6
A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family. (23085305)
2013
7
Atypical hereditary spastic paraplegia with thin corpus callosum in a Korean patient with a novel SPG11 mutation. (22175763)
2012
8
Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations. (21214876)
2012
9
SPAST mutations in Australian patients with hereditary spastic paraplegia. (23252998)
2012
10
Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. (20718791)
2011
11
Bladder dysfunction in hereditary spastic paraplegia: what to expect? (19726407)
2010
12
Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19. (20039086)
2010
13
Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation. (19735987)
2010
14
Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network. (20200447)
2010
15
New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP). (19034539)
2009
16
Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia. (19917823)
2009
17
MR imaging findings in autosomal recessive hereditary spastic paraplegia. (19193756)
2009
18
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. (19439420)
2009
19
Hereditary spastic paraplegia: identification of an SPG3A gene mutation in a Chinese family. (19652243)
2009
20
Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots. (18191948)
2008
21
Are patients with hereditary spastic paraplegia different from patients with spastic diplegia during walking? Gait evaluation using 3D gait analysis. (17509240)
2007
22
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia. (16682546)
2006
23
Methylphenidate fails to improve gait and muscle tone in patients with sporadic and hereditary spastic paraplegia. (16705687)
2006
24
Primary lateral sclerosis, hereditary spastic paraplegia and amyotrophic lateral sclerosis: discrete entities or spectrum? (16036421)
2005
25
A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia. (15711826)
2005
26
Objective assessment of gait after intrathecal baclofen in hereditary spastic paraplegia. (15765194)
2005
27
The Drosophila homologue of the hereditary spastic paraplegia protein, spastin, severs and disassembles microtubules. (15823537)
2005
28
Gait analysis of sporadic and hereditary spastic paraplegia. (15164190)
2004
29
Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations. (15248095)
2004
30
Hereditary spastic paraplegia with frontal lobe dysfunction: a clinicopathologic study. (15596767)
2004
31
Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11). (14732628)
2004
32
Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class. (12960222)
2003
33
Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin. (14506257)
2003
34
Hereditary spastic paraplegia: clues from a rare disorder for a common problem? (12938737)
2003
35
Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia. (12163196)
2002
36
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34. (12112072)
2002
37
Hereditary spastic paraplegia. (12512341)
2002
38
Spastin gene mutation in Japanese with hereditary spastic paraplegia. (12161613)
2002
39
Autopsy case of autosomal recessive hereditary spastic paraplegia with reference to the muscular pathology. (11666018)
2001
40
Hereditary spastic paraplegia caused by mutations in the SPG4 gene. (11039577)
2000
41
Neurological and neuroradiological progression in hereditary spastic paraplegia with a thin corpus callosum. (10987381)
2000
42
Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q. (9973294)
1999
43
Management of spasticity in hereditary spastic paraplegia. (10368840)
1999
44
Genetic anticipation in a large family with pure autosomal dominant hereditary spastic paraplegia. (10232750)
1999
45
Hereditary spastic paraplegia: report of two siblings. (9599901)
1998
46
Pure hereditary spastic paraplegia. (9192272)
1997
47
Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia. (8780101)
1996
48
Hereditary spastic paraplegia and Evans's syndrome. (8819560)
1996
49
A quantitative study of sensory function in hereditary spastic paraplegia. (2364265)
1990
50
Quantitation of Meissner's corpuscles in hereditary neurologic disorders. Charcot-Marie-Tooth disease, Roussy-Levy syndrome, Dejerine-Sottas disease, hereditary sensory neuropathy, spinocerebellar degenerations, and hereditary spastic paraplegia. (5948001)
1966

Variations for Hereditary Spastic Paraplegia

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Expression for genes affiliated with Hereditary Spastic Paraplegia

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

Pathways for genes affiliated with Hereditary Spastic Paraplegia

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Compounds for genes affiliated with Hereditary Spastic Paraplegia

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GO Terms for genes affiliated with Hereditary Spastic Paraplegia

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Cellular components related to Hereditary Spastic Paraplegia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endosomeGO:00057689.7KIAA0196, SPAST
2axonGO:00304249.4ZFYVE27, ATL1
3cytoplasmic vesicleGO:00314109.2SPG11, SPAST
4endoplasmic reticulumGO:00057839.2ZFYVE27, ATL1, SPAST
5integral component of membraneGO:00160217.0NIPA1, ZFYVE27, AFG3L2, ATL1, SPAST, SPG11

Biological processes related to Hereditary Spastic Paraplegia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein homooligomerizationGO:00512609.6ATL1, SPAST
2axonogenesisGO:00074098.9AFG3L2, SPAST, ATL1
3cell deathGO:00082196.0AFG3L2, SPG7, SPG11, NIPA1, KIF5A, KIAA0196

Molecular functions related to Hereditary Spastic Paraplegia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleoside-triphosphatase activityGO:00171119.6AFG3L2, SPG7
2microtubule bindingGO:00080179.5KIF5A, SPAST
3unfolded protein bindingGO:00510829.5AFG3L2, SPG7
4metalloendopeptidase activityGO:00042229.3AFG3L2, SPG7
5ATP bindingGO:00055248.7SPG7, SPAST, AFG3L2, KIF5A
6protein bindingGO:00055157.1KIF5A, SPG7, SPG11, SPAST, ATL1, AFG3L2

Products for genes affiliated with Hereditary Spastic Paraplegia

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Sources for Hereditary Spastic Paraplegia

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3CDC
13ExPASy
14FMA
22GTR
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24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet