FSP
MCID: HRD010
MIFTS: 54

Hereditary Spastic Paraplegia (FSP) malady

Neuronal, Genetic categories

Summaries for Hereditary Spastic Paraplegia

Sources:
8Disease Ontology, 43NIH Rare Diseases, 44NINDS, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NINDS:44 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 spastic paraplegia 3a and spastic paraplegia 1, and has symptoms including syndactyly of fingers/interdigital palm, hypertonia/spasticity/rigidity/stiffness and abnormal gait. An important gene associated with Hereditary Spastic Paraplegia is KIAA0196 (KIAA0196). Affiliated tissues include spinal cord, brain and whole blood.

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

NIH Rare Diseases:43 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:64 Hereditary Spastic Paraplegia (HSP), also called Familial Spastic Paraplegias, French Settlement... more...

Description from OMIM:47 270700, 182601, 610250, 270800, 600363 275900, 604360, 607259, 182600, 605280, 613647, 612539, 613206, 604187, 603563, 612020, 312920, 610244, 270685 more

GeneReviews summary for hsp

Aliases & Classifications for Hereditary Spastic Paraplegia

Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 44NINDS, 45Novoseek, 49Orphanet, 61UMLS, 47OMIM, 35MeSH, 27ICD9CM, 57SNOMED-CT, 26ICD10 via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Neuronal


Characteristics (Orphanet epidemiological data):

49
hereditary spastic paraplegia:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/100000; Age of onset: Variable


Aliases & Descriptions:

hereditary spastic paraplegia 8 19 43 20 22 44 49
familial spastic paraplegia 8 19 49
hereditary spastic paraparesis 19 49
hsp 43 49
spastic paraplegia, hereditary 61
spastic paraplegia hereditary 45
familial spastic paraparesis 43
strumpell-lorrain syndrome 19
strümpell-lorrain disease 49
hsmn v 8
fsp 43
spg 49


Related Diseases for Hereditary Spastic Paraplegia

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Hereditary Spastic Paraplegia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 152)
idRelated DiseaseScoreTop Affiliating Genes
1spastic paraplegia 3a30.7ATL1, SPAST
2spastic paraplegia 110.8
3spastic paraplegia 1110.7
4troyer syndrome10.7
5spastic paraplegia 710.6
6hereditary ataxia10.6
7spastic paraplegia 210.6
8ataxia10.6
9lateral sclerosis10.5
10spastic paraplegia 410.5
11spastic paraplegia 810.5
12axonal neuropathy10.5
13familial spastic paralysis10.5
14amyotrophic lateral sclerosis10.4
15spastic paraplegia 1710.4
16neuropathy sensory spastic paraplegia10.4
17spastic paraplegia 1210.4
18spastic diplegia10.3
19machado-joseph disease10.3
20huntington's disease10.3
21spastic paraplegia 910.3
22spastic paraplegia 1010.3
23spastic paraplegia 1510.3
24spastic paraplegia 1410.3
25spastic paraplegia 1610.3
26mental retardation10.3
27spg11-related hereditary spastic paraplegia with thin corpus callosum10.3
28spasticity10.3
29neuropathy, hereditary sensory, with spastic paraplegia10.3
30restless legs syndrome10.2
31microcephaly10.2
32adult syndrome10.2
33addison's disease10.2
34adrenomyeloneuropathy10.2
35guillain-barr� syndrome10.2
36tremor10.2
37henoch-schoenlein purpura10.2
38arthritis10.2
39colorectal cancer10.2
40parkinson's disease10.2
41hypobetalipoproteinemia10.2
42evans' syndrome10.2
43pelizaeus-merzbacher disease10.2
44friedreich ataxia10.2
45neurogenic bladder10.2
46allan-herndon-dudley syndrome10.2
47krabbe disease10.2
48adrenoleukodystrophy10.2
49muscular atrophy10.2
50bipolar i disorder10.2

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



Diseases related to hereditary spastic paraplegia

Clinical Features for Hereditary Spastic Paraplegia

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

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

Symptoms:

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

Drugs & Therapeutics for Hereditary Spastic Paraplegia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Hereditary Spastic Paraplegia

Drug clinical trials:

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Search NIH Clinical Center for Hereditary Spastic Paraplegia

Search CenterWatch for Hereditary Spastic Paraplegia

Genetic Tests for Hereditary Spastic Paraplegia

Sources:
20GeneTests, 22GTR
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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

Sources:
33MalaCards
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MalaCards organs/tissues related to Hereditary Spastic Paraplegia:

33
Spinal cord, Brain, Whole blood, Cerebellum, Retina, T cells

Animal Models for Hereditary Spastic Paraplegia or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Hereditary Spastic Paraplegia

Sources:
51PubMed
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Articles related to Hereditary Spastic Paraplegia:

(show top 50)    (show all 417)
idTitleAuthorsYear
1
A novel mutation in PLP1 causes severe hereditary spastic paraplegia type 2. (24103481)
2014
2
REEPing the benefits of an animal model of hereditary spastic paraplegia. (24051371)
2013
3
Exome sequencing released a case of X-linked adrenoleukodystrophy mimicking recessive hereditary spastic paraplegia. (23664929)
2013
4
Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia. (23438842)
2013
5
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. (23664120)
2013
6
Interaction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15. (23825025)
2013
7
Hereditary spastic paraplegia protein spartin is an FK506-binding protein identified by mRNA display. (23890011)
2013
8
Atypical hereditary spastic paraplegia with thin corpus callosum in a Korean patient with a novel SPG11 mutation. (22175763)
2012
9
Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations. (21214876)
2012
10
Mutations in the ER-shaping protein reticulon 2 cause the axon- degenerative disorder hereditary spastic paraplegia type 12. (22232211)
2012
11
Clinical variability and L-Dopa responsive Parkinsonism in hereditary spastic paraplegia 11. (22893306)
2012
12
Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG42) caused by SLC33A1 mutation in a Chinese kindred. (20306460)
2010
13
New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP). (19034539)
2009
14
Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia. (19423133)
2009
15
Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity. (19438933)
2009
16
Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastin. (18202664)
2008
17
Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene. (18563470)
2008
18
Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. (19007737)
2008
19
Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4. (18401025)
2008
20
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. (18321925)
2008
21
Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11). (18717728)
2008
22
Hereditary spastic paraplegia 3A associated with axonal neuropathy. (17502470)
2007
23
A novel mutation in the SPG3A gene (atlastin) in hereditary spastic paraplegia. (17380240)
2007
24
Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia. (17098887)
2007
25
Hereditary spastic paraplegia associated with dopa-responsive parkinsonism. (16463348)
2006
26
ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia. (16826525)
2006
27
Spinal anaesthesia in a patient with hereditary spastic paraplegia: case report and literature review. (16798455)
2006
28
Spastin related hereditary spastic paraplegia with dysplastic corpus callosum. (16009377)
2005
29
Gait analysis of sporadic and hereditary spastic paraplegia. (15164190)
2004
30
Hereditary spastic paraplegia with frontal lobe dysfunction: a clinicopathologic study. (15596767)
2004
31
Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation. (15667412)
2004
32
Clinical features of hereditary spastic paraplegia with thin corpus callosum: report of 5 Chinese cases. (15265372)
2004
33
Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia. (15452312)
2004
34
Many pathways lead to hereditary spastic paraplegia. (12849205)
2003
35
SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia. (14607301)
2003
36
The relationship between anaerobic lactate threshold and plasma catecholamines during incremental exercise in hereditary spastic paraplegia. (12911138)
2003
37
A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia. (12874406)
2003
38
A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). (12355402)
2002
39
Hereditary spastic paraplegia. (12432827)
2002
40
Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia. (11843700)
2002
41
Autopsy case of autosomal recessive hereditary spastic paraplegia with reference to the muscular pathology. (11666018)
2001
42
Recent advances in hereditary spastic paraplegia. (11470961)
2001
43
Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation. (10980739)
2000
44
Hereditary spastic paraplegia: mitochondrial metalloproteases of yeast. (10453730)
1999
45
Hereditary spastic paraplegia: LOD-score considerations for confirmation of linkage in a heterogeneous trait. (9042923)
1997
46
Hereditary spastic paraplegia linked to chromosome 15q: Analysis of candidate genes. (8618696)
1996
47
Sensory neuropathy in hereditary spastic paraplegia. (8006649)
1994
48
Autosomal recessive hereditary sensory neuropathy with spastic paraplegia. (7922454)
1994
49
Hereditary spastic paraplegia: a clinical and genetic study of cases in the north-east of England. (6582228)
1983
50
Hereditary spastic paraplegia. (15415753)
1950

Genetic Variations for Hereditary Spastic Paraplegia

Expression for genes affiliated with Hereditary Spastic Paraplegia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hereditary Spastic Paraplegia

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

Pathways for genes affiliated with Hereditary Spastic Paraplegia

Compounds for genes affiliated with Hereditary Spastic Paraplegia

GO Terms for genes affiliated with Hereditary Spastic Paraplegia

Sources:
16Gene Ontology
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Biological processes related to Hereditary Spastic Paraplegia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrion organizationGO:00700510.4SPG7, LONP1
2axonogenesisGO:00740910.4ATL1, AFG3L2, SPAST
3protein homooligomerizationGO:05126010.3SPAST, ATL1, LONP1
4cell deathGO:00821910.2SPAST, NIPA1, ATL1, AFG3L2, ZFYVE27, KIF5A
5protein catabolic processGO:03016310.1SPG7, AFG3L2

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

idNameGO IDScoreTop Affiliating Genes
1nucleoside-triphosphatase activityGO:01711110.4SPG7, AFG3L2

Products for genes affiliated with Hereditary Spastic Paraplegia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hereditary Spastic Paraplegia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet