FSP
MCID: HRD010
MIFTS: 59

Hereditary Spastic Paraplegia (FSP) malady

Neuronal diseases, Genetic diseases categories

Summaries for Hereditary Spastic Paraplegia

About this section
Sources:
8Disease Ontology, 42NIH Rare Diseases, 43NINDS, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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: Hereditary Spastic Paraplegia, also known as familial spastic paraplegia, is related to paraplegia and spastic paraplegia 3a, 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.

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:63 Hereditary Spastic Paraplegia (HSP), also called Familial Spastic Paraplegias, French Settlement... more...

Description from OMIM:46 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

About this section
Sources:
8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 43NINDS, 44Novoseek, 48Orphanet, 60UMLS, 46OMIM, 34MeSH, 27ICD9CM, 56SNOMED-CT, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 25ICD10
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 42 20 22 43 48
familial spastic paraplegia 8 19 48
hereditary spastic paraparesis 19 48
hsp 42 48
spastic paraplegia, hereditary 60
spastic paraplegia hereditary 44
familial spastic paraparesis 42
strumpell-lorrain syndrome 19
strümpell-lorrain disease 48
hsmn v 8
fsp 42
spg 48


External Ids:

Disease Ontology8 DOID:2476
ICD9CM27 334.1
SNOMED-CT via Orphanet57 39912006
ICD10 via Orphanet26 G11.4
ICD1025 G11.4

Related Diseases for Hereditary Spastic Paraplegia

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 197)
idRelated DiseaseScoreTop Affiliating Genes
1paraplegia32.1SPAST, SPG20, RTN2, KIAA0196, KIF5A, ZFYVE27
2spastic paraplegia 3a30.9SPAST, ATL1
3motor neuron disease30.2SPAST
4spastic paraplegia 1110.7
5neuropathy10.7
6spastic paraplegia 410.6
7spastic paraplegia 710.6
8troyer syndrome10.6
9hereditary ataxia10.5
10lateral sclerosis10.5
11cerebritis10.5
12spastic paraplegia 810.5
13axonal neuropathy10.4
14neuronitis10.4
15dementia10.4
16hereditary sensory neuropathy10.4
17spastic paraplegia 1710.4
18familial spastic paralysis10.4
19amyotrophic lateral sclerosis10.4
20peripheral neuropathy10.4
21spastic paraplegia 1510.4
22spastic paraplegia 210.4
23spastic diplegia10.3
24machado-joseph disease10.3
25cataract10.3
26multiple sclerosis10.3
27spastic paraplegia 110.3
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
35restless legs syndrome10.2
36microcephaly10.2
37adult syndrome10.2
38addison's disease10.2
39wells-jankovic syndrome10.1
40henoch-schoenlein purpura10.1
41arthritis10.1
42ischemia10.1
43purpura10.1
44colorectal cancer10.1
45parkinson's disease10.1
46hypobetalipoproteinemia10.1
47huntington's disease10.1
48neurogenic bladder10.1
49allan-herndon-dudley syndrome10.1
50factor xii deficiency10.1

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



Diseases related to hereditary spastic paraplegia

Clinical Features for Hereditary Spastic Paraplegia

About this section
Sources:
46OMIM, 48Orphanet
See all sources

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:

48 (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

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

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

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Hereditary Spastic Paraplegia:

id Genetic test Affiliating Genes
1 Hereditary Spastic Paraplegia20 22

Anatomical Context for Hereditary Spastic Paraplegia

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Hereditary Spastic Paraplegia:

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

Animal Models for Hereditary Spastic Paraplegia or affiliated genes

About this section

Publications for Hereditary Spastic Paraplegia

About this section
Sources:
50PubMed
See all sources

Articles related to Hereditary Spastic Paraplegia:

(show top 50)    (show all 417)
idTitleAuthorsYear
1
Novel deletion of SPAST in a Chinese family with hereditary spastic paraplegia. (23716148)
2013
2
Novel SPG11 mutations in Chinese families with hereditary spastic paraplegia with thin corpus callosum. (23121729)
2013
3
Clinical Spectrum of Hereditary Spastic Paraplegia in Children: A study of 74 cases. (23984021)
2013
4
Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. (23332916)
2013
5
Mechanisms of postural instability in hereditary spastic paraplegia. (23784609)
2013
6
Role of kinesin-1 in the pathogenesis of SPG10, a rare form of hereditary spastic paraplegia. (22785106)
2013
7
Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12. (23857908)
2013
8
Hereditary spastic paraplegia-causing mutations in atlastin-1 interfere with BMPRII trafficking. (23079343)
2013
9
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. (23897027)
2013
10
Reticulon-like-1, the Drosophila orthologue of the hereditary spastic paraplegia gene reticulon 2, is required for organization of endoplasmic reticulum and of distal motor axons. (22543973)
2012
11
TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutation. (22302102)
2012
12
Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males. (21546041)
2011
13
Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia. (21545838)
2011
14
Genetic and chemical modulation of spastin-dependent axon outgrowth in zebrafish embryos indicates a role for impaired microtubule dynamics in hereditary spastic paraplegia. (20829563)
2010
15
A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia. (20613862)
2010
16
Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations. (20562464)
2010
17
Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia. (19917823)
2009
18
Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study. (19339254)
2009
19
Hereditary spastic paraplegias. (19494379)
2009
20
The prevalence of hereditary spastic paraplegia and the occurrence of SPG4 mutations in Estonia. (19039240)
2009
21
Chinese patients with Machado-Joseph disease presenting with complicated hereditary spastic paraplegia. (19453404)
2009
22
Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia. (18855023)
2009
23
Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia. (18190593)
2008
24
Familial hypobetalipoproteinemia in a Turkish family with hereditary spastic paraplegia. (18261467)
2008
25
The Hsp60-(p.V98I) mutation associated with hereditary spastic paraplegia SPG13 compromises chaperonin function both in vitro and in vivo. (18400758)
2008
26
Hereditary spastic paraplegia genes in Drosophila: dissecting their roles in axonal degeneration and intracellular traffic. (18309792)
2008
27
Are patients with hereditary spastic paraplegia different from patients with spastic diplegia during walking? Gait evaluation using 3D gait analysis. (17509240)
2007
28
Clinical characteristics and spastin gene mutation analysis on an autosomal dominant kindred with hereditary spastic paraplegia]. (17407089)
2007
29
The hereditary spastic paraplegia protein spartin localises to mitochondria. (16945107)
2006
30
SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years. (16401858)
2006
31
No correlation between amount of aberrant transcript and severity of phenotype in hereditary spastic paraplegia patients with a c.1242A > G splice mutation in the SPG4 gene. (16362530)
2006
32
Hereditary spastic paraplegia: clinical genomics and pharmacogenetic perspectives. (17020412)
2006
33
A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia. (15711826)
2005
34
The Drosophila homologue of the hereditary spastic paraplegia protein, spastin, severs and disassembles microtubules. (15823537)
2005
35
Oxidative DNA damage and activation of c-Jun N-terminal kinase pathway in fibroblasts from patients with hereditary spastic paraplegia. (16388335)
2005
36
New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1. (16130112)
2005
37
A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1. (15455396)
2004
38
Hereditary spastic paraplegia: spastin phenotype and function. (15210518)
2004
39
Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin. (14506257)
2003
40
Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia. (12124993)
2002
41
Is the transportation highway the right road for hereditary spastic paraplegia? (12355399)
2002
42
Silver syndrome is not linked to any of the previously established autosomal dominant hereditary spastic paraplegia loci. (11471175)
2001
43
An atypical intronic deletion widens the spectrum of mutations in hereditary spastic paraplegia. (11402104)
2001
44
Central motor conduction in hereditary motor and sensory neuropathy and hereditary spastic paraplegia. (10499202)
1999
45
Hereditary spastic paraplegia: genetic heterogeneity and genotype-phenotype correlation. (12194386)
1999
46
Analysis of microtubule-associated protein 1a gene in hereditary spastic paraplegia. (9818901)
1998
47
A new form of complicated hereditary spastic paraplegia with cataracts, atretic ear canals and hypopigmentation. (9637210)
1998
48
'Pure' and 'complicated' forms of hereditary spastic paraplegia presenting in childhood. (2044852)
1991
49
Hereditary spastic paraplegia. (3392192)
1988
50
Protein patterns of cerebrospinal fluid in hereditary ataxias and hereditary spastic paraplegia. (49401)
1975

Genetic Variations for Hereditary Spastic Paraplegia

About this section

Expression for genes affiliated with Hereditary Spastic Paraplegia

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Hereditary Spastic Paraplegia

About this section

GO Terms for genes affiliated with Hereditary Spastic Paraplegia

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hereditary Spastic Paraplegia

About this section
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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet