FSP
MCID: HRD010
MIFTS: 58

Hereditary Spastic Paraplegia (FSP) malady

Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases, Fetal diseases, Gastrointestinal diseases, Bone diseases categories
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Summaries for Hereditary Spastic Paraplegia

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NINDS:43 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 familial spastic paraplegia, is related to spastic paraplegia 3a and paraplegia, and has symptoms including An important gene associated with Hereditary Spastic Paraplegia is KIAA0196 (KIAA0196). Affiliated tissues include brain, spinal cord and eye, and related mouse phenotype behavior/neurological.

Disease Ontology:8 A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.

NIH Rare Diseases:42 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:65 Hereditary Spastic Paraplegia (HSP), also known as Hereditary Spastic Paraparesis, Familial Spastic... more...

Descriptions from OMIM:46 612539, 312920, 270685, 605280, 270800 600363, 182600, 613206, 607259, 604187, 612020, 270700, 604360, 610244, 613647, 610250, 603563, 275900, 182601 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 8 19 42 20 22 43
Familial Spastic Paraplegia 8 19
Hereditary Spastic Paraparesis 19
Spastic Paraplegia, Hereditary 62
Spastic Paraplegia Hereditary 44
 
Familial Spastic Paraparesis 42
Strumpell-Lorrain Syndrome 19
Hsmn V 8
Hsp 42
Fsp 42


Classifications:



Related Diseases for Hereditary Spastic Paraplegia

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Diseases in the Spastic Paraplegia 1 family:

hereditary spastic paraplegia Spastic Paraplegia 3a
Spastic Paraplegia 4 Spastic Paraplegia 7
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 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 Spastic Paraplegia 63
Spastic Paraplegia 64 Spastic Paraplegia 45

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

(show top 50)    (show all 214)
idRelated DiseaseScoreTop Affiliating Genes
1spastic paraplegia 3a30.9ATL1, SPAST
2paraplegia30.1SPG7, SPG11, SPAST, ATL1, AFG3L2, ZFYVE27
3spasticity11.5
4troyer syndrome10.7
5neuropathy10.7
6spastic paraplegia 1110.7
7spastic paraplegia 710.7
8spastic paraplegia 410.6
9spastic paraplegia 810.6
10ataxia10.6
11lateral sclerosis10.5
12cerebritis10.5
13neuronitis10.5
14dementia10.5
15spastic paraplegia 1510.5
16spastic paraplegia 1710.5
17familial spastic paralysis10.5
18amyotrophic lateral sclerosis10.4
19hereditary ataxia10.4
20axonal neuropathy10.4
21peripheral neuropathy10.4
22spastic paraplegia 210.4
23mast syndrome10.4
24spg11-related hereditary spastic paraplegia with thin corpus callosum10.4
25cataract10.3
26multiple sclerosis10.3
27machado-joseph disease10.3
28spastic diplegia10.3
29l1 syndrome10.3
30spastic paraplegia 110.3
31mental retardation10.3
32neuropathy, hereditary sensory, with spastic paraplegia10.3
33spastic paraplegia 5a, autosomal recessive10.3
34spastic paraplegia 3a, autosomal dominant10.3
35spastic paraplegia 7, autosomal recessive10.3
36spastic paraplegia 2, x-linked10.3
37amyotrophic lateral sclerosis type 1410.3SPAST
38leukemia10.3
39addison's disease10.2
40restless legs syndrome10.2
41microcephaly10.2
42adrenomyeloneuropathy10.2
43tremor10.2
44arthritis10.2
45colorectal cancer10.2
46henoch-schoenlein purpura10.2
47ischemia10.2
48purpura10.2
49adrenoleukodystrophy10.2
50cerebellar ataxia10.2

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:

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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:

32
Brain, Spinal cord, Eye, Retina, Testes, Cerebellum

Animal Models for Hereditary Spastic Paraplegia or affiliated genes

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MGI Mouse Phenotypes related to Hereditary Spastic Paraplegia:

36
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 427)
idTitleAuthorsYear
1
A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother. (25315759)
2014
2
Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia. (24824479)
2014
3
Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients. (23443022)
2013
4
A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family. (23085305)
2013
5
SPG3A-linked hereditary spastic paraplegia associated with cerebral glucose hypometabolism. (23233086)
2013
6
Atypical hereditary spastic paraplegia with thin corpus callosum in a Korean patient with a novel SPG11 mutation. (22175763)
2012
7
Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations. (21214876)
2012
8
SPAST mutations in Australian patients with hereditary spastic paraplegia. (23252998)
2012
9
Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. (20718791)
2011
10
Bladder dysfunction in hereditary spastic paraplegia: what to expect? (19726407)
2010
11
Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19. (20039086)
2010
12
Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation. (19735987)
2010
13
Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network. (20200447)
2010
14
New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP). (19034539)
2009
15
Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia. (19917823)
2009
16
MR imaging findings in autosomal recessive hereditary spastic paraplegia. (19193756)
2009
17
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. (19439420)
2009
18
Hereditary spastic paraplegia: identification of an SPG3A gene mutation in a Chinese family. (19652243)
2009
19
Receptor expression-enhancing protein 1 gene (SPG31) mutations are rare in Chinese Han patients with hereditary spastic paraplegia. (19781397)
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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Expression patterns in normal tissues for genes affiliated with Hereditary Spastic Paraplegia

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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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endosomeGO:0057689.7SPAST, KIAA0196
2axonGO:0304249.4ZFYVE27, ATL1
3cytoplasmic vesicleGO:0314109.2SPAST, SPG11
4endoplasmic reticulumGO:0057839.2SPAST, ATL1, ZFYVE27
5integral component of membraneGO:0160217.0ATL1, SPG7, SPG11, SPAST, NIPA1, ZFYVE27

Biological processes related to Hereditary Spastic Paraplegia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein homooligomerizationGO:0512609.6ATL1, SPAST
2axonogenesisGO:0074098.9AFG3L2, ATL1, SPAST
3cell deathGO:0082196.0NIPA1, SPG7, SPG11, SPAST, ATL1, AFG3L2

Molecular functions related to Hereditary Spastic Paraplegia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleoside-triphosphatase activityGO:0171119.6SPG7, AFG3L2
2microtubule bindingGO:0080179.5SPAST, KIF5A
3unfolded protein bindingGO:0510829.5AFG3L2, SPG7
4metalloendopeptidase activityGO:0042229.3SPG7, AFG3L2
5ATP bindingGO:0055248.7AFG3L2, SPAST, SPG7, KIF5A
6protein bindingGO:0055157.1SPG11, KIF5A, ZFYVE27, AFG3L2, ATL1, SPAST

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
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet