MCID: HRD010
MIFTS: 68

Hereditary Spastic Paraplegia malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Gastrointestinal diseases, Bone diseases, Metabolic diseases, Mental diseases

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

Classifications:



External Ids:

Disease Ontology10 DOID:2476
ICD1027 G11.4, G82.1
ICD9CM29 334.1
MeSH36 D015419
UMLS65 C0037773, C0037772

Summaries for Hereditary Spastic Paraplegia

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NIH Rare Diseases:45 Hereditary spastic paraplegia (hsp) 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. this leads to difficulty walking. as degeneration continues, symptoms worsen. if only the lower body is affected, hsp is classified as uncomplicated or pure. hsp is classified as complicated or complex if other systems are involved. in these cases, additional symptoms, including impaired vision, ataxia, epilepsy, cognitive impairment, peripheral neuropathy, and/or deafness, occur. the different forms of hsp are caused by mutations in different genes. inheritance varies. there are no specific treatments to prevent, slow, or reverse hsp. individual symptoms may be treated with medications and/or physical therapy.  last updated: 4/24/2016

MalaCards based summary: Hereditary Spastic Paraplegia, also known as spastic paraplegia, is related to spastic paraplegia 4 and spastic paraplegia 8, 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 spinal cord, and related mouse phenotypes are nervous system and reproductive system.

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

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 symptoms include 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.

Wikipedia:68 Hereditary spastic paraplegia (HSP), also known as hereditary spastic paraparesis, familial spastic... more...

GeneReviews summary for NBK1509

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 43
Spastic Paraplegia 45 Spastic Paraplegia 46
Spastic Paraplegia 47 Spastic Paraplegia 48
Spastic Paraplegia 49 Spastic Paraplegia 50
Spastic Paraplegia 52 Spastic Paraplegia 53
Spastic Paraplegia 54 Spastic Paraplegia 55
Spastic Paraplegia 56 Spastic Paraplegia 57
Spastic Paraplegia 61 Spastic Paraplegia 64
Spastic Paraplegia 66 Spastic Paraplegia 72
Spastic Paraplegia 75 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 Spastic Paraplegia Type 72
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 143)
idRelated DiseaseScoreTop Affiliating Genes
1spastic paraplegia 433.3ATL1, SPAST
2spastic paraplegia 832.4KIF1A, SPG7
3spastic paraplegia 3131.5ATL1, KIF1A
4hereditary spastic paraplegia - autosomal dominant inheritance12.0
5hereditary spastic paraplegia - autosomal recessive inheritance12.0
6hereditary spastic paraplegia - x-linked inheritance12.0
7hereditary spastic paraplegia - maternal inheritance12.0
8spg11-related hereditary spastic paraplegia with thin corpus callosum12.0
9troyer syndrome12.0
10spastic paraplegia 711.9
11spastic paraplegia 1111.9
12masa syndrome11.7
13spastic paraplegia 211.6
14infantile-onset ascending hereditary spastic paralysis11.5
15paraplegia11.3
16spasticity11.3
17mast syndrome11.1
18wells-jankovic syndrome11.1
19spastic paraplegia 3a10.8
20spastic paraplegia 1510.8
21spastic paraplegia 5a, autosomal recessive10.7
22spastic paraplegia 3a, autosomal dominant10.7
23neuropathy10.5
24ataxia10.4
25lateral sclerosis10.3
26silver spastic paraplegia syndrome10.3
27cerebritis10.3
28neuronitis10.3
29spastic paraplegia 110.2DDHD1, SPAST
30peripheral neuropathy10.2
31dementia10.2
32hereditary ataxia10.2
33axonal neuropathy10.2
34spastic paraplegia 29, autosomal dominant10.1
35spastic paraplegia 6310.1
36spastic paraplegia 2310.1
37spastic paraplegia 13, autosomal dominant10.1
38spastic ataxia 3, autosomal recessive10.1
39spastic paraplegia 30, autosomal recessive10.1
40spastic paraplegia 57, autosomal recessive10.1
41spastic paraplegia 42, autosomal dominant10.1
42spastic paraplegia 14, autosomal recessive10.1
43spastic paraplegia 38, autosomal dominant10.1
44spastic paraplegia 56, autosomal recessive10.1
45spastic paraplegia 25, autosomal recessive10.1
46spastic paraplegia 48, autosomal recessive10.1
47spastic paraplegia 53, autosomal recessive10.1
48spastic paraplegia 37, autosomal dominant10.1
49spastic paraplegia 54, autosomal recessive10.1
50spastic paraplegia 18, autosomal recessive10.1

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

UMLS symptoms related to Hereditary Spastic Paraplegia:


hyperexplexia, pain in lower limb, cramps of lower extremities, flaccid quadriplegia, paraplegia, flaccid, paraplegia, ataxic, paraparesis, spastic

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 24)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AcetylcholineexperimentalPhase 2, Phase 368951-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
Miochol E
O-Acetylcholine
acetylcholine chloride
2Cholinergic AgentsPhase 2, Phase 33243
3Neurotransmitter AgentsPhase 2, Phase 314795
4Botulinum ToxinsPhase 2, Phase 3616
5
chenodeoxycholic acidapprovedPhase 225474-25-910133
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
6
Resveratrolexperimental, investigationalPhase 2105501-36-0, 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
7Gastrointestinal AgentsPhase 26401
8LaxativesPhase 2344
9Protective AgentsPhase 25651
10CatharticsPhase 2344
11Platelet Aggregation InhibitorsPhase 21935
12Peripheral Nervous System AgentsPhase 218510
13Atorvastatin CalciumPhase 2714134523-03-8
14Antirheumatic AgentsPhase 28496
15AnalgesicsPhase 29358
16Anti-Inflammatory AgentsPhase 28478
17Analgesics, Non-NarcoticPhase 25184
18Anti-Inflammatory Agents, Non-SteroidalPhase 23549
19AntioxidantsPhase 22442
20Antineoplastic Agents, PhytogenicPhase 24294
21
Creatineapproved, nutraceutical11057-00-1586
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
22
Cholineapproved, nutraceutical13062-49-7305
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
23N-Methylaspartate98
24Aspartic AcidNutraceutical98

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 SPG5Active, not recruitingNCT02314208Phase 2
3Nuclear Magnetic Spectroscopy Imaging to Evaluate Primary Lateral Sclerosis, Hereditary Spastic Paraplegia and Amyotrophic Lateral SclerosisCompletedNCT00023075
4Genetic and Physical Study of Childhood Nerve and Muscle DisordersRecruitingNCT01568658
5Phenotype, 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

Anatomical Context for Hereditary Spastic Paraplegia

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MalaCards organs/tissues related to Hereditary Spastic Paraplegia:

33
Skeletal muscle, Brain, Spinal cord, Eye, Testes, 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:00036317.8AFG3L2, ALS2, HSPD1, KIF1A, KIF5A, L1CAM
2MP:00053896.8BSCL2, CYP7B1, DDHD1, HSPD1, KATNB1, L1CAM
3MP:00053866.2AFG3L2, ALS2, ATL1, BSCL2, CYP7B1, HSPD1

Publications for Hereditary Spastic Paraplegia

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Articles related to Hereditary Spastic Paraplegia:

(show top 50)    (show all 493)
idTitleAuthorsYear
1
Genetic and phenotypic characterization of complex hereditary spastic paraplegia. (27217339)
2016
2
Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients. (26856398)
2016
3
Hereditary Spastic Paraplegia: Beyond Clinical Phenotypes toward a Unified Pattern of Central Nervous System Damage. (25611737)
2015
4
Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia. (26714052)
2015
5
SPG11 mutation in a Turkish familial hypobetalipoproteinemia family with hereditary spastic paraplegia. (25769290)
2015
6
A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother. (25315759)
2014
7
Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia. (24824479)
2014
8
Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients. (23443022)
2013
9
A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family. (23085305)
2013
10
Atypical hereditary spastic paraplegia with thin corpus callosum in a Korean patient with a novel SPG11 mutation. (22175763)
2012
11
Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations. (21214876)
2012
12
SPAST mutations in Australian patients with hereditary spastic paraplegia. (23252998)
2012
13
Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. (20718791)
2011
14
Bladder dysfunction in hereditary spastic paraplegia: what to expect? (19726407)
2010
15
Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19. (20039086)
2010
16
Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation. (19735987)
2010
17
Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network. (20200447)
2010
18
New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP). (19034539)
2009
19
Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia. (19917823)
2009
20
MR imaging findings in autosomal recessive hereditary spastic paraplegia. (19193756)
2009
21
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. (19439420)
2009
22
Hereditary spastic paraplegia: identification of an SPG3A gene mutation in a Chinese family. (19652243)
2009
23
Are patients with hereditary spastic paraplegia different from patients with spastic diplegia during walking? Gait evaluation using 3D gait analysis. (17509240)
2007
24
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia. (16682546)
2006
25
Methylphenidate fails to improve gait and muscle tone in patients with sporadic and hereditary spastic paraplegia. (16705687)
2006
26
Primary lateral sclerosis, hereditary spastic paraplegia and amyotrophic lateral sclerosis: discrete entities or spectrum? (16036421)
2005
27
A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia. (15711826)
2005
28
Objective assessment of gait after intrathecal baclofen in hereditary spastic paraplegia. (15765194)
2005
29
The Drosophila homologue of the hereditary spastic paraplegia protein, spastin, severs and disassembles microtubules. (15823537)
2005
30
Gait analysis of sporadic and hereditary spastic paraplegia. (15164190)
2004
31
Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations. (15248095)
2004
32
Hereditary spastic paraplegia with frontal lobe dysfunction: a clinicopathologic study. (15596767)
2004
33
Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11). (14732628)
2004
34
Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class. (12960222)
2003
35
Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin. (14506257)
2003
36
Hereditary spastic paraplegia: clues from a rare disorder for a common problem? (12938737)
2003
37
Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia. (12163196)
2002
38
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34. (12112072)
2002
39
Hereditary spastic paraplegia. (12512341)
2002
40
Autopsy case of autosomal recessive hereditary spastic paraplegia with reference to the muscular pathology. (11666018)
2001
41
Hereditary spastic paraplegia caused by mutations in the SPG4 gene. (11039577)
2000
42
Neurological and neuroradiological progression in hereditary spastic paraplegia with a thin corpus callosum. (10987381)
2000
43
Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q. (9973294)
1999
44
Management of spasticity in hereditary spastic paraplegia. (10368840)
1999
45
Genetic anticipation in a large family with pure autosomal dominant hereditary spastic paraplegia. (10232750)
1999
46
Hereditary spastic paraplegia: report of two siblings. (9599901)
1998
47
Pure hereditary spastic paraplegia. (9192272)
1997
48
Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia. (8780101)
1996
49
A quantitative study of sensory function in hereditary spastic paraplegia. (2364265)
1990
50

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 pathwaysScoreTop Affiliating Genes
19.3KIAA0196, 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:003049610.0SPAST, SPG20
2early endosomeGO:00057699.1ALS2, HSPD1, KIAA0196, NIPA1

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

idNameGO IDScoreTop Affiliating Genes
1anterograde axonal transportGO:000808910.2SPAST, SPG7
2positive regulation of microtubule depolymerizationGO:00311179.8KATNB1, SPAST
3myelinationGO:00425529.8AFG3L2, PLP1
4lipid particle organizationGO:00343899.7BSCL2, SPG20

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

idNameGO IDScoreTop Affiliating Genes
1microtubule bindingGO:00080179.5KATNB1, KIF1A

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