FSP
MCID: HRD010
MIFTS: 61

Hereditary Spastic Paraplegia (FSP) malady

Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases, Fetal diseases, Gastrointestinal diseases, Bone diseases categories

Summaries for Hereditary Spastic Paraplegia

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Sources:
9Disease Ontology, 44NIH Rare Diseases, 45NINDS, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NINDS:45 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: Hereditary Spastic Paraplegia, also known as familial spastic paraplegia, is related to paraplegia and amyotrophic lateral sclerosis, and has symptoms including insensitivity to pain, autosomal dominant inheritance and hemiplegia/diplegia/hemiparesia/limb palsy. An important gene associated with Hereditary Spastic Paraplegia is KIAA0196 (KIAA0196). Affiliated tissues include brain, spinal cord and retina, 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:44 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:66 Hereditary Spastic Paraplegia (HSP), also known as Hereditary Spastic Paraparesis, Familial Spastic... more...

Description from OMIM:48 182601, 604360, 312920, 607259, 610250 603563, 605280, 604187, 270685, 613647, 275900, 270700, 612539, 613206, 610244, 270800, 182600, 600363, 612020 more

GeneReviews summary for hsp

Aliases & Classifications for Hereditary Spastic Paraplegia

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9Disease Ontology, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 45NINDS, 50Orphanet, 46Novoseek, 63UMLS, 48OMIM, 59SNOMED-CT, 36MeSH, 28ICD9CM, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet, 26ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

50
hereditary spastic paraplegia:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/100000; Age of onset: Variable


Aliases & Descriptions:

hereditary spastic paraplegia 9 20 44 21 23 45 50
familial spastic paraplegia 9 20 50
hereditary spastic paraparesis 20 50
hsp 44 50
spastic paraplegia, hereditary 63
spastic paraplegia hereditary 46
familial spastic paraparesis 44
strumpell-lorrain syndrome 20
strümpell-lorrain disease 50
hsmn v 9
fsp 44
spg 50


External Ids:

Disease Ontology9 DOID:2476
ICD9CM28 334.1
SNOMED-CT via Orphanet60 39912006
ICD10 via Orphanet27 G11.4
UMLS via Orphanet64 C0037773
ICD1026 G11.4

Related Diseases for Hereditary Spastic Paraplegia

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18GeneCards, 19GeneDecks
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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 20 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 215)
idRelated DiseaseScoreTop Affiliating Genes
1paraplegia31.7NIPA1, SPG7, SPG11, SPAST, ATL1, AFG3L2
2amyotrophic lateral sclerosis30.7SPAST
3spastic paraplegia 3a30.6ATL1, SPAST
4spasticity11.5
5neuropathy10.7
6troyer syndrome10.6
7spastic paraplegia 1110.6
8spastic paraplegia 710.6
9ataxia10.6
10lateral sclerosis10.5
11cerebritis10.5
12neuronitis10.5
13dementia10.5
14familial spastic paralysis10.5
15axonal neuropathy10.4
16peripheral neuropathy10.4
17hereditary ataxia10.4
18spastic paraplegia 410.4
19mast syndrome10.4
20machado-joseph disease10.3
21spastic diplegia10.3
22cataract10.3
23multiple sclerosis10.3
24spastic paraplegia 810.3
25spastic paraplegia 110.3
26spastic paraplegia 1510.3
27mental retardation10.3
28spg11-related hereditary spastic paraplegia with thin corpus callosum10.3
29neuropathy, hereditary sensory, with spastic paraplegia10.3
30spastic paraplegia 5a, autosomal recessive10.3
31spastic paraplegia 3a, autosomal dominant10.3
32spastic paraplegia 7, autosomal recessive10.3
33spastic paraplegia 2, x-linked10.3
34leukemia10.2
35microcephaly10.2
36addison's disease10.2
37restless legs syndrome10.2
38adrenomyeloneuropathy10.2
39tremor10.2
40henoch-schoenlein purpura10.2
41arthritis10.2
42colorectal cancer10.2
43ischemia10.2
44purpura10.2
45hypobetalipoproteinemia10.2
46factor xii deficiency10.2
47adrenoleukodystrophy10.2
48muscular atrophy10.2
49huntington's disease10.2
50neurogenic bladder10.2

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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48OMIM, 50Orphanet
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Clinical features from OMIM:

182601, 604360, 312920, 607259, 610250, 603563, 605280, 604187, 270685, 613647 275900, 270700, 612539, 613206, 610244, 270800, 182600, 600363, 612020 more

Symptoms:

50 (show all 7)
  • insensitivity to pain
  • autosomal dominant inheritance
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • ataxia/incoordination/trouble of the equilibrium
  • abnormal gait
  • hypertonia/spasticity/rigidity/stiffness
  • syndactyly of fingers/interdigital palm

Drugs & Therapeutics for Hereditary Spastic Paraplegia

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Hereditary Spastic Paraplegia

Drug clinical trials:

Search ClinicalTrials for Hereditary Spastic Paraplegia

Search NIH Clinical Center for Hereditary Spastic Paraplegia

Search CenterWatch for Hereditary Spastic Paraplegia

Genetic Tests for Hereditary Spastic Paraplegia

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21GeneTests, 23GTR
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Genetic tests related to Hereditary Spastic Paraplegia:

id Genetic test Affiliating Genes
1 Hereditary Spastic Paraplegia21 23

Anatomical Context for Hereditary Spastic Paraplegia

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34MalaCards
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MalaCards organs/tissues related to Hereditary Spastic Paraplegia:

34
Brain, Spinal cord, Retina, Testes, Eye, Cerebellum

Animal Models for Hereditary Spastic Paraplegia or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Hereditary Spastic Paraplegia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.2KIF5A, AFG3L2, ATL1, SPAST, SPG7

Publications for Hereditary Spastic Paraplegia

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53PubMed
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Articles related to Hereditary Spastic Paraplegia:

(show top 50)    (show all 408)
idTitleAuthorsYear
1
Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients. (23443022)
2013
2
A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family. (23085305)
2013
3
SPG3A-linked hereditary spastic paraplegia associated with cerebral glucose hypometabolism. (23233086)
2013
4
Atypical hereditary spastic paraplegia with thin corpus callosum in a Korean patient with a novel SPG11 mutation. (22175763)
2012
5
Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations. (21214876)
2012
6
SPAST mutations in Australian patients with hereditary spastic paraplegia. (23252998)
2012
7
Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. (20718791)
2011
8
Bladder dysfunction in hereditary spastic paraplegia: what to expect? (19726407)
2010
9
Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19. (20039086)
2010
10
Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation. (19735987)
2010
11
Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network. (20200447)
2010
12
New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP). (19034539)
2009
13
Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia. (19917823)
2009
14
MR imaging findings in autosomal recessive hereditary spastic paraplegia. (19193756)
2009
15
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. (19439420)
2009
16
Hereditary spastic paraplegia: identification of an SPG3A gene mutation in a Chinese family. (19652243)
2009
17
Receptor expression-enhancing protein 1 gene (SPG31) mutations are rare in Chinese Han patients with hereditary spastic paraplegia. (19781397)
2009
18
Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots. (18191948)
2008
19
Are patients with hereditary spastic paraplegia different from patients with spastic diplegia during walking? Gait evaluation using 3D gait analysis. (17509240)
2007
20
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia. (16682546)
2006
21
Methylphenidate fails to improve gait and muscle tone in patients with sporadic and hereditary spastic paraplegia. (16705687)
2006
22
Translating m-AAA protease function in mitochondria to hereditary spastic paraplegia. (16647881)
2006
23
Hereditary spastic paraplegia associated with dopa-responsive parkinsonism. (16463348)
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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2BioGPS, 16Gene Expression Omnibus DataSets
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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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17Gene Ontology
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Cellular components related to Hereditary Spastic Paraplegia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endosomeGO:0057689.7KIAA0196, SPAST
2axonGO:0304249.4ZFYVE27, ATL1
3cytoplasmic vesicleGO:0314109.2SPG11, SPAST
4endoplasmic reticulumGO:0057839.2ZFYVE27, ATL1, SPAST
5integral component of membraneGO:0160217.0NIPA1, ZFYVE27, AFG3L2, ATL1, SPAST, SPG11

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:0171119.6AFG3L2, SPG7
2microtubule bindingGO:0080179.5KIF5A, SPAST
3unfolded protein bindingGO:0510829.5AFG3L2, SPG7
4metalloendopeptidase activityGO:0042229.3AFG3L2, SPG7
5ATP bindingGO:0055248.7SPG7, SPAST, AFG3L2, KIF5A
6protein bindingGO:0055157.1KIF5A, SPG7, SPG11, SPAST, ATL1, AFG3L2

Products for genes affiliated with Hereditary Spastic Paraplegia

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  • Antibodies
  • Proteins
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Sources for Hereditary Spastic Paraplegia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet