MCID: HRD010
MIFTS: 64

Hereditary Spastic Paraplegia malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Gastrointestinal diseases, Bone diseases, Metabolic diseases, Mental diseases categories

Aliases & Classifications for Hereditary Spastic Paraplegia

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Aliases & Descriptions for Hereditary Spastic Paraplegia:

Name: Hereditary Spastic Paraplegia 32 10 21 45 22 46 12
Familial Spastic Paraplegia 10 21 22
Hereditary Spastic Paraparesis 21 22
Spastic Paraplegia, Hereditary 65 36
Spastic Paraplegia Hereditary 47 24
 
Strumpell-Lorrain Syndrome 21 22
Hsp 45 22
Familial Spastic Paraparesis 45
Hsmn V 10
Fsp 45


Classifications:



External Ids:

Disease Ontology10 DOID:2476
ICD9CM29 334.1
ICD1027 G11.4

Summaries for Hereditary Spastic Paraplegia

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NINDS:46 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 8 and spastic paraplegia 31, and has symptoms including hypertonia, gait disturbance and hemiplegia/hemiparesis. An important gene associated with Hereditary Spastic Paraplegia is KIF1A (Kinesin Family Member 1A), and among its related pathways is Endocytosis. Affiliated tissues include skeletal muscle, brain and eye, and related mouse phenotypes are nervous system and behavior/neurological.

Disease Ontology:10 A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.

NIH Rare Diseases:45 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

GeneReviews summary for hsp

Related Diseases for Hereditary Spastic Paraplegia

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Diseases in the Spastic Paraplegia 3a family:

Spastic Paraplegia 29, Autosomal Dominant Spastic Paraplegia 63
Spastic Paraplegia 47, Autosomal Recessive Spastic Paraplegia 23
Spastic Paraplegia 44, Autosomal Recessive Spastic Paraplegia 74, Autosomal Recessive
Spastic Paraplegia 4, Autosomal Dominant Spastic Paraplegia 31, Autosomal Dominant
Spastic Paraplegia 13, Autosomal Dominant Spastic Paraplegia 30, Autosomal Recessive
Spastic Paraplegia 57, Autosomal Recessive Spastic Paraplegia 42, Autosomal Dominant
Spastic Paraplegia 14, Autosomal Recessive Spastic Paraplegia 38, Autosomal Dominant
Spastic Paraplegia 56, Autosomal Recessive Spastic Paraplegia 72, Autosomal Recessive
Spastic Paraplegia 25, Autosomal Recessive Spastic Paraplegia 48, Autosomal Recessive
Spastic Paraplegia 50, Autosomal Recessive Spastic Paraplegia 53, Autosomal Recessive
Spastic Paraplegia 37, Autosomal Dominant Spastic Paraplegia 54, Autosomal Recessive
Spastic Paraplegia 18, Autosomal Recessive Spastic Paraplegia 5a, Autosomal Recessive
Spastic Paraplegia 8, Autosomal Dominant Spastic Paraplegia 46, Autosomal Recessive
Spastic Paraplegia 19, Autosomal Dominant Spastic Paraplegia 27, Autosomal Recessive
Spastic Paraplegia 64, Autosomal Recessive Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 9a, Autosomal Dominant Spastic Paraplegia 9b, Autosomal Recessive
Spastic Paraplegia 45, Autosomal Recessive Spastic Paraplegia 41, Autosomal Dominant
Spastic Paraplegia 26, Autosomal Recessive Spastic Paraplegia 10, Autosomal Dominant
Spastic Paraplegia 36, Autosomal Dominant Spastic Paraplegia 55, Autosomal Recessive
Spastic Paraplegia 24, Autosomal Recessive Spastic Paraplegia 3a, Autosomal Dominant
Spastic Paraplegia 52, Autosomal Recessive Spastic Paraplegia 32, Autosomal Recessive
Spastic Paraplegia 28, Autosomal Recessive Spastic Paraplegia 15, Autosomal Recessive
Spastic Paraplegia 49, Autosomal Recessive Spastic Paraplegia 6, Autosomal Dominant
Spastic Paraplegia 11, Autosomal Recessive Spastic Paraplegia 51, Autosomal Recessive
Spastic Paraplegia 61, Autosomal Recessive Spastic Paraplegia 35, Autosomal Recessive
Spastic Paraplegia 7, Autosomal Recessive Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 43, Autosomal Recessive Spastic Paraplegia 12, Autosomal Dominant
Spastic Paraplegia 73, Autosomal Dominant hereditary spastic paraplegia
Spastic Paraplegia 4 Spastic Paraplegia 7
Spastic Paraplegia 8 Spastic Paraplegia 11
Spastic Paraplegia 1 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 24
Spastic Paraplegia 25 Spastic Paraplegia 26
Spastic Paraplegia 29 Spastic Paraplegia 3
Spastic Paraplegia 31 Spastic Paraplegia 32
Spastic Paraplegia 39 Spastic Paraplegia 51
Spastic Paraplegia 5a Spastic Paraplegia 5b
Spastic Paraplegia 6 Spastic Paraplegia 9
Spastic Paraplegia 28 Spastic Paraplegia 30
Spastic Paraplegia 33 Spastic Paraplegia 35
Spastic Paraplegia 42 Spastic Paraplegia 47
Spastic Paraplegia 48 Spastic Paraplegia 50
Spastic Paraplegia 52 Spastic Paraplegia 56
Spastic Paraplegia 64 Spastic Paraplegia 66
Spastic Paraplegia 44 Autosomal Recessive Spastic Paraplegia Type 62
Autosomal Recessive Spastic Paraplegia Type 60 Autosomal Recessive Spastic Paraplegia Type 59
Autosomal Recessive Spastic Paraplegia Type 68 Autosomal Recessive Spastic Paraplegia Type 69
Autosomal Recessive Spastic Paraplegia Type 70 Autosomal Recessive Spastic Paraplegia Type 71
Autosomal Recessive Spastic Paraplegia Type 66 Autosomal Recessive Spastic Paraplegia Type 67
Autosomal Recessive Spastic Paraplegia Type 58 Autosomal Dominant Spastic Paraplegia Type 9

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

(show top 50)    (show all 295)
idRelated DiseaseScoreTop Affiliating Genes
1spastic paraplegia 830.8KIF1A, SPG7
2spastic paraplegia 3130.7ATL1, KIF1A
3spastic paraplegia 430.4ATL1, DNAH8, KIF1A, NIPA1, SPAST
4spastic paraplegia 130.3DDHD1, SPAST, SPG11, SPG7
5paraplegia11.5
6spasticity11.5
7neuropathy10.8
8troyer syndrome10.7
9spastic paraplegia 710.7
10spastic paraplegia 1110.7
11ataxia10.7
12lateral sclerosis10.6
13peripheral neuropathy10.6
14spastic paraplegia 3a10.6
15spastic paraplegia 210.6
16masa syndrome10.5
17neuronitis10.5
18cerebritis10.5
19mast syndrome10.5
20dementia10.5
21spastic paraplegia 1710.5
22roussy-levy syndrome10.4
23charcot-marie-tooth disease10.4
24hereditary ataxia10.4
25motor neuron disease10.4
26axonal neuropathy10.4
27hereditary sensory neuropathy10.4
28polyneuropathy10.4
29infantile-onset ascending hereditary spastic paralysis10.4
30hereditary spastic paraplegia - autosomal dominant inheritance10.4
31hereditary spastic paraplegia - autosomal recessive inheritance10.4
32hereditary spastic paraplegia - x-linked inheritance10.4
33hereditary spastic paraplegia - maternal inheritance10.4
34spastic paraplegia 1510.4
35charcot-marie-tooth neuropathy10.4
36spg11-related hereditary spastic paraplegia with thin corpus callosum10.4
37familial spastic paralysis10.4
38hypertonia10.4
39autosomal dominant spastic paraplegia type 910.4
40hypobetalipoproteinemia10.3
41spastic paralysis, infantile onset ascending10.3
42cerebellar ataxia10.3
43hereditary motor and sensory neuropathy v10.3
44neuropathy, hereditary sensory, with spastic paraplegia10.3
45spastic paraplegia 5a, autosomal recessive10.3
46spastic paraplegia 3a, autosomal dominant10.3
47machado-joseph disease10.3
48cataract10.3
49cerebral palsy10.3
50muscle disorders10.3

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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Drugs for Hereditary Spastic Paraplegia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Botulinum ToxinsPhase 2, Phase 3590
2
chenodeoxycholic acidapprovedPhase 223474-25-910133
Synonyms:
(+)-chenodeoxycholate
(+)-chenodeoxycholic acid
(3a,5b,7a)-3,7-dihydroxy-cholan-24-oate
(3a,5b,7a)-3,7-dihydroxy-cholan-24-oic acid
3a,7a-Dihydroxy-5b,14a,17b-cholanate
3a,7a-Dihydroxy-5b,14a,17b-cholanic acid
3a,7a-Dihydroxy-5b-cholan-24-oate
3a,7a-Dihydroxy-5b-cholan-24-oic acid
3a,7a-Dihydroxy-5b-cholanate
3a,7a-Dihydroxy-5b-cholanic acid
3alpha,7alpha-Dihydroxy-5beta-cholanic acid
7a-Hydroxy-desoxycholsaeure
 
7alpha-Hydroxylithocholic acid
Anthropodeoxycholic acid
Anthropodesoxycholic acid
CDCA
Chenic acid
Chenix
Chenocholic acid
Chenodal
Chenodeoxycholate
Chenodeoxycholic acid
Chenodesoxycholic acid
Chenodesoxycholsaeure
Chenodiol
Gallodesoxycholic acid
3
AtorvastatinapprovedPhase 2690134523-00-560823
Synonyms:
(3R,5R)-7-[2-(4-fluorophenyl)-3-phenyl-4-(phenylcarbamoyl)-5-propan-2-ylpyrrol-1-yl]-3,5-dihydroxyheptanoic acid
(3R,5R)-7-[3-(anilinocarbonyl)-5-(4-fluorophenyl)-2-isopropyl-4-phenyl-1H-pyrrol-1-yl]-3,5-dihydroxyheptanoic acid
(R-(R*,R*))-2-(4-Fluorophenyl)-beta,delta-dihydroxy-5-(1-methylethyl)-3-phenyl-4-((phenylamino)carbonyl)-1H-pyrrole-1-heptanoic acid
(betaR,deltaR)-2-(p-Fluorophenyl)-beta,delta-dihydroxy-5-isopropyl-3-phenyl-4-(phenylcarbamoyl)pyrrole-1-heptanoic acid
134523-00-5
134523-03-8
7-[2-(4-FLUORO-PHENYL)-5-ISOPROPYL-3-PHENYL-4-PHENYLCARBAMOYL-PYRROL-1-YL]- 3,5-DIHYDROXY-HEPTANOIC ACID
AC-15611
AC1L1TZT
AC1Q1OZQ
AKOS000281127
Atogal
Atorlip
Atorpic
Atorvastatin
Atorvastatin (INN)
Atorvastatin Calcium
Atorvastatin [INN:BAN]
Atorvastatin acid
Atorvastatin calcium
BIDD:GT0336
C06834
C33H35FN2O5
CCRIS 7159
CHEBI:39548
CHEMBL1487
CI 981
CID60823
Cardyl
D07474
DB01076
Faboxim
 
HSDB 7039
Hipolixan
LS-136975
Lipitor
Lipitor (TN)
Lipitor(TM)
Lipotropic
Lipovastatinklonal
Liprimar
Lowden
MolPort-000-883-773
NCGC00159458-02
Normalip
Sincol
Sortis
Sortis (TN)
Sotis
Torvacard
Torvast
Totalip
Tozalip
Tulip
UNII-A0JWA85V8F
Vastina
Xanator
Xarator
Xavator
Zurinel
atorvastatin
atorvastatina
atorvastatine
atorvastatinium
atrovastin
nchembio.301-comp8
4
Resveratrolexperimental, investigationalPhase 2101501-36-0, 955365-80-724856436, 445154
Synonyms:
(E)-5-(2-(4-hydroxyphenyl)ethenyl)-1,3-benzenediol
(E)-5-(p-Hydroxystyryl)resorcinol
(E)-5-[2-(4-Hydroxyphenyl)ethenyl]-1,3-benzenediol
(E)-5-[2-(4-hydroxyphenyl)ethenyl]-1,3-benzendiol
(E)-resveratrol
 
3,4',5-Stilbenetriol
3,4',5-Trihydroxystilbene
3,4',5-trihydroxy-stilbene
MK-1775
trans-3,4',5 - Trihydroxystilbene
trans-3,4',5-trihydroxystilbene
trans-Resveratrol
5LaxativesPhase 2278
6CatharticsPhase 2278
7
Creatineapproved, nutraceutical10357-00-1586
Synonyms:
((amino(Imino)methyl)(methyl)amino)acetic acid
((amino(imino)methyl)(methyl)amino)acetate
((amino(imino)methyl)(methyl)amino)acetic acid
(N-methylcarbamimidamido)acetic acid
(alpha-Methylguanido)acetate
(alpha-Methylguanido)acetic acid
(α-methylguanido)acetic acid
Cosmocair C 100
Creatin
Creatine
Creatine hydrate
Kreatin
 
Krebiozon
Methylglycocyamine
Methylguanidoacetate
Methylguanidoacetic acid
N-(Aminoiminomethyl)-N-Methyl-Glycine
N-(aminoiminomethyl)-N-methylglycine
N-Amidinosarcosine
N-Carbamimidoyl-N-methylglycine
N-Methyl-N-guanylglycine
N-[(e)-AMINO(imino)methyl]-N-methylglycine
Phosphagen
[[Amino(imino)methyl](methyl)amino]acetate
[[Amino(imino)methyl](methyl)amino]acetic acid
alpha-Methylguanidino acetic acid
8
Cholineapproved, nutraceutical12262-49-7305
Synonyms:
(2-Hydroxyethyl)trimethyl ammonium
(2-Hydroxyethyl)trimethylammonium
(beta-hydroxyethyl)trimethylammonium
2-Hydroxy-N,N,N-trimethyl-ethanaminium
2-Hydroxy-N,N,N-trimethylethanaminium
Bilineurine
Biocolina
Biocoline
Choline
Choline cation
 
Choline ion
Cholinum
Hepacholine
Hormocline
Lipotril
N,N,N-Trimethylethanol-ammonium
N,N,N-Trimethylethanolammonium
N,N,N-trimethylethanol-ammonium
N-trimethylethanolamine
Neocolina
Paresan
trimethylethanolamine
9N-Methylaspartate91
10Aspartic AcidNutraceutical91

Interventional clinical trials:

idNameStatusNCT IDPhase
1Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic ParaplegiaNot yet recruitingNCT02604186Phase 2, Phase 3
2Therapeutic Metabolic Intervention in Patients With Spastic Paraplegia SPG5RecruitingNCT02314208Phase 2
3Nuclear Magnetic Spectroscopy Imaging to Evaluate Primary Lateral Sclerosis, Hereditary Spastic Paraplegia and Amyotrophic Lateral SclerosisCompletedNCT00023075
4Validation of Biomarkers in Amyotrophic Lateral Sclerosis (ALS)CompletedNCT00677768
5Genetic and Physical Study of Childhood Nerve and Muscle DisordersRecruitingNCT01568658
6Phenotype, Genotype & Biomarkers in ALS and Related DisordersRecruitingNCT02327845

Search NIH Clinical Center for Hereditary Spastic Paraplegia


Cochrane evidence based reviews: Spastic Paraplegia, Hereditary

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 Paraplegia22 24

Anatomical Context for Hereditary Spastic Paraplegia

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MalaCards organs/tissues related to Hereditary Spastic Paraplegia:

33
Skeletal muscle, Brain, Eye, Testes, Spinal cord, Retina, Myeloid

Animal Models for Hereditary Spastic Paraplegia or affiliated genes

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MGI Mouse Phenotypes related to Hereditary Spastic Paraplegia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.2AFG3L2, ALS2, HSPD1, KIF1A, KIF5A, PLP1
2MP:00053866.7AFG3L2, ALS2, ATL1, HSPD1, KIF1A, KIF5A

Publications for Hereditary Spastic Paraplegia

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Articles related to Hereditary Spastic Paraplegia:

(show top 50)    (show all 466)
idTitleAuthorsYear
1
Hereditary Spastic Paraplegia: Beyond Clinical Phenotypes toward a Unified Pattern of Central Nervous System Damage. (25611737)
2015
2
SPG11 mutation in a Turkish familial hypobetalipoproteinemia family with hereditary spastic paraplegia. (25769290)
2015
3
A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother. (25315759)
2014
4
Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia. (24824479)
2014
5
Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients. (23443022)
2013
6
A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family. (23085305)
2013
7
Atypical hereditary spastic paraplegia with thin corpus callosum in a Korean patient with a novel SPG11 mutation. (22175763)
2012
8
Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations. (21214876)
2012
9
SPAST mutations in Australian patients with hereditary spastic paraplegia. (23252998)
2012
10
Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. (20718791)
2011
11
Bladder dysfunction in hereditary spastic paraplegia: what to expect? (19726407)
2010
12
Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19. (20039086)
2010
13
Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation. (19735987)
2010
14
Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network. (20200447)
2010
15
New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP). (19034539)
2009
16
Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia. (19917823)
2009
17
MR imaging findings in autosomal recessive hereditary spastic paraplegia. (19193756)
2009
18
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. (19439420)
2009
19
Hereditary spastic paraplegia: identification of an SPG3A gene mutation in a Chinese family. (19652243)
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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Clinvar genetic disease variations for Hereditary Spastic Paraplegia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1KIF1ANM_001244008.1(KIF1A): c.206C> T (p.Ser69Leu)single nucleotide variantPathogenicrs786200949GRCh37Chr 2, 241727625: 241727625

Expression for genes affiliated with Hereditary Spastic Paraplegia

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

Pathways for genes affiliated with Hereditary Spastic Paraplegia

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Pathways related to Hereditary Spastic Paraplegia according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4KIAA0196, KIF5A, SPG20, ZFYVE27

GO Terms for genes affiliated with Hereditary Spastic Paraplegia

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Cellular components related to Hereditary Spastic Paraplegia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1midbodyGO:00304969.7KATNB1, SPAST, SPG20
2endoplasmic reticulumGO:00057839.1ATL1, KIAA0196, REEP1, SPAST, ZFYVE27
3early endosomeGO:00057699.1ALS2, HSPD1, KIAA0196, NIPA1
4microtubuleGO:00058748.6DNAH8, KATNB1, KIF1A, KIF5A, SPAST
5axonGO:00304248.0ALS2, ATL1, KATNB1, SPG11, ZFYVE27

Biological processes related to Hereditary Spastic Paraplegia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1anterograde axon cargo transportGO:000808910.3KIF1A, SPG7
2microtubule severingGO:005101310.1KATNB1, SPAST
3positive regulation of microtubule depolymerizationGO:003111710.0KATNB1, SPAST
4microtubule-based movementGO:00070189.5DNAH8, KIF1A, KIF5A
5neuromuscular junction developmentGO:00075289.4AFG3L2, ALS2
6axonogenesisGO:00074099.3AFG3L2, ALS2, ATL1, SPAST

Molecular functions related to Hereditary Spastic Paraplegia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ATP-dependent microtubule motor activity, plus-end-directedGO:000857410.6KIF1A, KIF5A
2microtubule-severing ATPase activityGO:000856810.2KATNB1, SPAST
3unfolded protein bindingGO:00510829.7AFG3L2, HSPD1, SPG7
4microtubule motor activityGO:00037779.7DNAH8, KIF1A, KIF5A
5microtubule bindingGO:00080179.1KATNB1, KIF1A, KIF5A, REEP1, SPAST
6ATP bindingGO:00055248.2AFG3L2, DNAH8, HSPD1, KIF1A, KIF5A, SPAST

Sources for Hereditary Spastic Paraplegia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet