FSP
MCID: HRD010
MIFTS: 59

Hereditary Spastic Paraplegia (FSP) malady

Neuronal diseases, Genetic diseases categories

Summaries for Hereditary Spastic Paraplegia

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8Disease Ontology, 42NIH Rare Diseases, 43NINDS, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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: Hereditary Spastic Paraplegia, also known as familial spastic paraplegia, is related to paraplegia and spastic paraplegia 3a, and has symptoms including syndactyly of fingers/interdigital palm, ataxia/incoordination/trouble of the equilibrium and autosomal dominant inheritance. An important gene associated with Hereditary Spastic Paraplegia is KIAA0196 (KIAA0196). Affiliated tissues include brain, spinal cord and testes.

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

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

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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 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

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Sources:
46OMIM, 48Orphanet
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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:

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

Drugs & Therapeutics for Hereditary Spastic Paraplegia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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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

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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

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32MalaCards
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MalaCards organs/tissues related to Hereditary Spastic Paraplegia:

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

Animal Models for Hereditary Spastic Paraplegia or affiliated genes

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Publications for Hereditary Spastic Paraplegia

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50PubMed
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Articles related to Hereditary Spastic Paraplegia:

(show top 50)    (show all 417)
idTitleAuthorsYear
1
Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort. (23733235)
2013
2
REEPing the benefits of an animal model of hereditary spastic paraplegia. (24051371)
2013
3
Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia. (23438842)
2013
4
Enhanced reticulospinal output in patients with (REEP1) hereditary spastic paraplegia type 31. (24221643)
2013
5
Full body gait analysis may improve diagnostic discrimination between hereditary spastic paraplegia and spastic diplegia: a preliminary study. (23085499)
2013
6
Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP). (24107482)
2013
7
Interaction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15. (23825025)
2013
8
Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations. (21214876)
2012
9
Comparative modeling of 25-hydroxycholesterol-7I+-hydroxylase (CYP7B1): ligand binding and analysis of hereditary spastic paraplegia type 5 CYP7B1 mutations. (21541746)
2012
10
Novel crystalloid oligodendrogliopathy in hereditary spastic paraplegia. (22392442)
2012
11
Clinical variability and L-Dopa responsive Parkinsonism in hereditary spastic paraplegia 11. (22893306)
2012
12
An autopsy case of adult-onset hereditary spastic paraplegia type 2 with a novel mutation in exon 7 of the proteolipid protein 1 gene. (22101368)
2011
13
Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia. (20550563)
2011
14
Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG42) caused by SLC33A1 mutation in a Chinese kindred. (20306460)
2010
15
Hereditary spastic paraplegia: identification of an SPG3A gene mutation in a Chinese family. (19652243)
2009
16
Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia. (19423133)
2009
17
Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients. (19453301)
2009
18
Six cases of SCA3/MJD patients that mimic hereditary spastic paraplegia in clinic. (19608203)
2009
19
Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene. (18563470)
2008
20
Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4. (18401025)
2008
21
Variable and tissue-specific subunit composition of mitochondrial m- AAA protease complexes linked to hereditary spastic paraplegia. (17101804)
2007
22
Hereditary spastic paraplegia with hypoplastic corpus callosum in a Turkish family. (17621486)
2007
23
Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia. (17098887)
2007
24
ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia. (16826525)
2006
25
Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners. (16339213)
2006
26
Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia. (16357941)
2006
27
The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria. (16239145)
2005
28
Spastin related hereditary spastic paraplegia with dysplastic corpus callosum. (16009377)
2005
29
Gait analysis of sporadic and hereditary spastic paraplegia. (15164190)
2004
30
Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection. (15164410)
2004
31
Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation. (15667412)
2004
32
Many pathways lead to hereditary spastic paraplegia. (12849205)
2003
33
SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia. (14607301)
2003
34
A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia. (12874406)
2003
35
A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). (12355402)
2002
36
Hereditary spastic paraplegia. (12432827)
2002
37
Hereditary spastic paraplegia: the pace quickens. (12112070)
2002
38
Autopsy case of autosomal recessive hereditary spastic paraplegia with reference to the muscular pathology. (11666018)
2001
39
Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation. (10980739)
2000
40
Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q. (9973294)
1999
41
Hereditary spastic paraplegia: mitochondrial metalloproteases of yeast. (10453730)
1999
42
Hereditary spastic paraplegia: report of two siblings. (9599901)
1998
43
The EAAT2 (GLT-1) gene in motor neuron disease: absence of mutations in amyotrophic lateral sclerosis and a point mutation in patients with hereditary spastic paraplegia. (9771796)
1998
44
Hereditary spastic paraplegia: LOD-score considerations for confirmation of linkage in a heterogeneous trait. (9042923)
1997
45
Evoked potentials in hereditary spastic paraplegia. (8282519)
1993
46
Hereditary Spastic Paraplegia Overview (20301682)
1993
47
Pattern visual evoked responses in hereditary spastic paraplegia. (7217977)
1981
48
Hereditary spastic paraplegia in Western Norway. (4426134)
1974
49
Sphincter involvement in hereditary spastic paraplegia. (4795738)
1973
50
Hereditary spastic paraplegia. (15415753)
1950

Genetic Variations for Hereditary Spastic Paraplegia

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Expression for genes affiliated with Hereditary Spastic Paraplegia

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1BioGPS, 15Gene 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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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

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  • Antibodies
  • Proteins
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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet