FSP
MCID: HRD010
MIFTS: 67

Hereditary Spastic Paraplegia (FSP) 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 35 11 23 48 24 49 27 13
Hereditary Spastic Paraparesis 11 23 24
Familial Spastic Paraplegia 11 23 24
Strumpell-Lorrain Syndrome 23 24
Hsp 48 24
Spastic Paraplegia 3, Autosomal Dominant 68
 
Spastic Paraplegia, Hereditary 68
Spastic Paraplegia Hereditary 50
Familial Spastic Paraparesis 48
French Settlement Disease 11
Strumpell-Lorrain Disease 11
Fsp 48

Classifications:



External Ids:

Disease Ontology11 DOID:2476
ICD1030 G11.4
ICD9CM32 334.1

Summaries for Hereditary Spastic Paraplegia

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NINDS:49 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.  Several genetic mutations have been identified which underlie various forms of HSP, and specialized genetic testing and diagnosis are available at some medical centers.  HSP has several forms of inheritance.  Not all children in a family will necessarily develop symptoms, although they may be carriers of the abnormal gene.  Symptoms may begin in childhood or adulthood, depending on the particular HSP gene involved.

MalaCards based summary: Hereditary Spastic Paraplegia, also known as hereditary spastic paraparesis, is related to hereditary spastic paraplegia 72 and spastic paraplegia 9a, autosomal dominant, and has symptoms including leg cramps, leg cramps and pain in lower limb. An important gene associated with Hereditary Spastic Paraplegia is KIF1A (Kinesin Family Member 1A), and among its related pathways is Endocytosis. Affiliated tissues include spinal cord, brain and testes, and related mouse phenotypes are Decreased influenza A H1N1 (A/Hamburg/04/2009) virus numbers and reproductive system.

NIH Rare Diseases:48 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

Disease Ontology:11 A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.

Wikipedia:71 Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive... more...

GeneReviews 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
Hereditary Spastic Paraplegia 3a Hereditary Spastic Paraplegia 51
Hereditary Spastic Paraplegia 62 Hereditary Spastic Paraplegia 72
Hereditary Spastic Paraplegia 75 Hereditary Spastic Paraplegia 76
Hereditary Spastic Paraplegia 77 Spastic Paraplegia 4
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 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 59
Spastic Paraplegia 61 Spastic Paraplegia 62
Spastic Paraplegia 64 Spastic Paraplegia 66
Spastic Paraplegia 72 Spastic Paraplegia 75
Spastic Paraplegia 76 Spastic Paraplegia 44
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
Spastic Paraplegia 78, Autosomal Recessive

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

(show top 50)    (show all 171)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary spastic paraplegia 7233.6ATL1, NIPA1, SPAST, ZFYVE27
2spastic paraplegia 9a, autosomal dominant32.9SPAST, SPG20, ZFYVE27
3spastic ataxia 3, autosomal recessive30.1HSPD1, PLP1
4hereditary spastic paraplegia 3a12.4
5hereditary spastic paraplegia 6212.2
6hereditary spastic paraplegia 7512.2
7hereditary spastic paraplegia 7712.2
8troyer syndrome12.2
9hereditary spastic paraplegia 5112.2
10hereditary spastic paraplegia 7612.2
11spastic paraplegia 7, autosomal recessive12.1
12spastic paraplegia 2, x-linked12.0
13spastic paraplegia 1112.0
14silver spastic paraplegia syndrome11.9
15mast syndrome11.9
16masa syndrome11.9
17spg11-related hereditary spastic paraplegia with thin corpus callosum11.9
18spastic paraplegia 4, autosomal dominant11.9
19spastic paraplegia 5a, autosomal recessive11.9
20spastic paraplegia 11, autosomal recessive11.9
21spastic paraplegia 29, autosomal dominant11.8
22spastic paraplegia 2311.8
23spastic paraplegia 44, autosomal recessive11.8
24spastic paraplegia 31, autosomal dominant11.8
25spastic paraplegia 13, autosomal dominant11.8
26spastic paraplegia 30, autosomal recessive11.8
27spastic paraplegia 57, autosomal recessive11.8
28spastic paraplegia 42, autosomal dominant11.8
29spastic paraplegia 14, autosomal recessive11.8
30spastic paraplegia 38, autosomal dominant11.8
31spastic paraplegia 56, autosomal recessive11.8
32spastic paraplegia 25, autosomal recessive11.8
33spastic paraplegia 48, autosomal recessive11.8
34spastic paraplegia 37, autosomal dominant11.8
35spastic paraplegia 54, autosomal recessive11.8
36spastic paraplegia 18, autosomal recessive11.8
37spastic paraplegia 8, autosomal dominant11.8
38spastic paraplegia 46, autosomal recessive11.8
39spastic paraplegia 45, autosomal recessive11.8
40spastic paraplegia 41, autosomal dominant11.8
41spastic paraplegia 26, autosomal recessive11.8
42spastic paraplegia 10, autosomal dominant11.8
43spastic paraplegia 36, autosomal dominant11.8
44spastic paraplegia 55, autosomal recessive11.8
45spastic paraplegia 24, autosomal recessive11.8
46spastic paraplegia 32, autosomal recessive11.8
47spastic paraplegia 28, autosomal recessive11.8
48spastic paraplegia 15, autosomal recessive11.8
49spastic paraplegia 49, autosomal recessive11.8
50spastic paraplegia 6, autosomal dominant11.8

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



Diseases related to hereditary spastic paraplegia

Symptoms & Phenotypes for Hereditary Spastic Paraplegia

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Human phenotypes related to Hereditary Spastic Paraplegia:

 64 (show all 6)
id Description HPO Frequency HPO Source Accession
1 ataxia64 HP:0001251
2 spasticity64 HP:0001257
3 gait disturbance64 HP:0001288
4 finger syndactyly64 HP:0006101
5 impaired pain sensation64 HP:0007328
6 paraplegia64 HP:0010550

UMLS symptoms related to Hereditary Spastic Paraplegia:


leg cramps, pain in lower limb, lower limb muscle weakness

GenomeRNAi Phenotypes related to Hereditary Spastic Paraplegia according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00195-A-310.0HSPD1, KATNB1, LONP1

MGI Mouse Phenotypes related to Hereditary Spastic Paraplegia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053897.7BSCL2, CYP7B1, DDHD1, HSPD1, KATNB1, L1CAM
2MP:00036317.7AFG3L2, ALS2, HSPD1, KATNB1, KIF1A, KIF5A
3MP:00053867.2AFG3L2, ALS2, ATL1, BSCL2, CYP7B1, HSPD1
4MP:00053786.6AFG3L2, ALS2, BSCL2, HSPD1, KATNB1, KIF1A

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 30)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AcetylcholineapprovedPhase 2, Phase 380551-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
O-Acetylcholine
acetylcholine chloride
2Neurotransmitter AgentsPhase 2, Phase 318340
3Cholinergic AgentsPhase 2, Phase 33992
4Botulinum ToxinsPhase 2, Phase 3697
5
chenodeoxycholic acidapprovedPhase 234474-25-910133
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
Chenodeoxycholate
Chenodeoxycholic acid
Chenodesoxycholic acid
Chenodesoxycholsaeure
Chenodiol
Gallodesoxycholic acid
6
Resveratrolexperimental, investigationalPhase 2122501-36-0, 955365-80-724856436, 445154
Synonyms:
(E)-5-(2-(4-hydroxyphenyl)ethenyl)-1,3-benzenediol(E)-5-(2-(4-hydroxyphenyl)ethenyl)-1,3-benzenediol
(E)-resveratrol
3,4',5-Trihydroxystilbene
3,4',5-trihydroxy-trans-stilbene
3,4',5-trihydroxystilbene
 
3,5,4'-trihydroxystilbene
5-[(E)-2-(4-hydroxyphenyl)vinyl]benzene-1,3-diol
MK-1775
trans-3,4',5 - Trihydroxystilbene
trans-Resveratrol
trans-resveratrol
7Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 21998
8Gastrointestinal AgentsPhase 28402
9Hypolipidemic AgentsPhase 22785
10Peripheral Nervous System AgentsPhase 223689
11Protective AgentsPhase 27443
12Platelet Aggregation InhibitorsPhase 22516
13CatharticsPhase 2537
14Lipid Regulating AgentsPhase 22766
15LaxativesPhase 2537
16Calcium, DietaryPhase 25713
17Atorvastatin CalciumPhase 2760134523-03-8
18Anticholesteremic AgentsPhase 22025
19Analgesics, Non-NarcoticPhase 26501
20AnalgesicsPhase 211733
21Anti-Inflammatory Agents, Non-SteroidalPhase 24443
22Anti-Inflammatory AgentsPhase 210729
23AntimetabolitesPhase 212054
24AntioxidantsPhase 23050
25Antirheumatic AgentsPhase 210956
26Antineoplastic Agents, PhytogenicPhase 25602
27
Creatineapproved, nutraceutical13057-00-1586
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
28
Cholineapproved, nutraceutical15462-49-7305
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
29N-Methylaspartate108
30Aspartic AcidNutraceutical108

Interventional clinical trials:

idNameStatusNCT IDPhase
1Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic ParaplegiaActive, not 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
4Disease Natural History and Biomarkers of SPG3A, SPG4A, and SPG31RecruitingNCT02859428
5Studying Cognition in SPG4RecruitingNCT03104088
6Phenotype, Genotype & Biomarkers in ALS and Related DisordersRecruitingNCT02327845
7Genetic and Physical Study of Childhood Nerve and Muscle DisordersRecruitingNCT01568658
8Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
9A Patient Centric Motor Neuron Disease Activities of Daily Living ScaleEnrolling by invitationNCT02852278

Search NIH Clinical Center for Hereditary Spastic Paraplegia

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 Paraplegia27 24

Anatomical Context for Hereditary Spastic Paraplegia

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MalaCards organs/tissues related to Hereditary Spastic Paraplegia:

36
Spinal cord, Brain, Testes, Retina, Eye, Cerebellum, Bone

Publications for Hereditary Spastic Paraplegia

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Articles related to Hereditary Spastic Paraplegia:

(show top 50)    (show all 543)
idTitleAuthorsYear
1
De novo REEP2 missense mutation in pure hereditary spastic paraplegia. (28491902)
2017
2
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78). (28137957)
2017
3
Defects in ER-endosome contacts impact lysosome function in hereditary spastic paraplegia. (28389476)
2017
4
Hereditary spastic paraplegia type 8 - neuropathological findings. (28181327)
2017
5
Hereditary spastic paraplegia: More than an upper motor neuron disease. (28449883)
2017
6
Studies on truncating mutations of SPAST associated with Hereditary Spastic Paraplegia indicate greater accumulation and toxicity of the M1 isoform of spastin. (28495799)
2017
7
Beneficial effects of rapamycin in a Drosophila model for hereditary spastic paraplegia. (27909242)
2017
8
Progressive hereditary spastic paraplegia caused by a homozygous KY mutation. (28488683)
2017
9
TFG associated hereditary spastic paraplegia: an addition to the phenotypic spectrum. (28124177)
2017
10
Hereditary spastic paraplegia due to a novel mutation of the REEP1 gene: Case report and literature review. (28099355)
2017
11
Clinical and genetic study of hereditary spastic paraplegia in Canada. (27957547)
2017
12
Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments. (28017243)
2017
13
PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia. (28295203)
2017
14
Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene. (28332297)
2017
15
Sequential bilateral complete rupture of the rectus femoris muscle in a patient with hereditary spastic paraplegia. (28264543)
2017
16
ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia. (28158749)
2017
17
Pathophysiology, diagnostic work-up and management of balance impairments and falls in patients with hereditary spastic paraplegia. (28471471)
2017
18
ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia. (27738760)
2017
19
Identification of a novel SPG4 tandem base substitution in a Chinese hereditary spastic paraplegia family. (27942873)
2016
20
Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in SPG11. (27900367)
2016
21
Coexistence of Factor VII Deficiency and Hereditary Spastic Paraplegia in Two Siblings. (28018685)
2016
22
Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56. (26936192)
2016
23
Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement. (27034427)
2016
24
Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia. (26888483)
2016
25
Non-motor symptoms in patients with hereditary spastic paraplegia caused by SPG4 mutations. (26806216)
2016
26
Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study. (27077743)
2016
27
SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia. (27334366)
2016
28
Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia. (27153400)
2016
29
Reep1 null mice reveal a converging role for hereditary spastic paraplegia proteins in lipid droplet regulation. (27638887)
2016
30
Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia. (27259058)
2016
31
De-novo KCNA2 mutations cause hereditary spastic paraplegia. (28032718)
2016
32
Identification of a Heterozygous SPG11 Mutation by Clinical Exome Sequencing in a Patient With Hereditary Spastic Paraplegia: A Case Report. (28119845)
2016
33
The importance of understanding gait features in hereditary spastic paraplegia: accomplishments and next steps. (26946256)
2016
34
Triple trouble: a striking new phenotype or competing genes in a family with hereditary spastic paraplegia. (27025852)
2016
35
Novel SPG 11 Mutations in Hereditary Spastic Paraplegia With Thin Corpus Callosum in a Chinese Family. (27018819)
2016
36
A novel SPAST frameshift mutation in a Chinese family with hereditary spastic paraplegia. (27629539)
2016
37
Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous R486C mutation in CYP7B1 (SPG5). (27879216)
2016
38
Multiparametric 3T MRI evaluation of hereditary spastic paraplegia: A case report. (27857457)
2016
39
Modeling Axonal Defects in Hereditary Spastic Paraplegia with Human Pluripotent Stem Cells. (27956894)
2016
40
Mechanism of impaired microtubule-dependent peroxisome trafficking and oxidative stress in SPAST-mutated cells from patients with Hereditary Spastic Paraplegia. (27229699)
2016
41
KCNA2 mutations are rare in hereditary spastic paraplegia. (28019661)
2016
42
Establishment of SPAST mutant induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia (HSP) patient. (27789400)
2016
43
Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands. (27084228)
2016
44
Novel Compound Heterozygous Spatacsin Mutations in a Greek Kindred with Hereditary Spastic Paraplegia SPG11 and Dementia. (27318863)
2016
45
Kinematic gait deficits at the trunk and pelvis: characteristic features in children with hereditary spastic paraplegia. (26910787)
2016
46
Spastizin mutation in hereditary spastic paraplegia with thin corpus callosum. (27544497)
2016
47
Genetic and phenotypic characterization of complex hereditary spastic paraplegia. (27217339)
2016
48
Primary lateral sclerosis and hereditary spastic paraplegia in sporadic patients. (27121928)
2016
49
Novel Mutations in Endoplasmic Reticulum Lipid Raft-associated Protein 2 Gene Cause Pure Hereditary Spastic Paraplegia Type 18. (27824013)
2016
50
Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing. (27679996)
2016

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)SNVPathogenicrs786200949GRCh37Chr 2, 241727625: 241727625

Copy number variations for Hereditary Spastic Paraplegia from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
114496423214218332236210DeletionSPASThereditary spastic paraplegia

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
19.0KIF5A, SPG20, WASHC5, 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
1endoplasmic reticulum tubular networkGO:007178210.8ATL1, ZFYVE27
2m-AAA complexGO:000574510.8AFG3L2, SPG7
3axon cytoplasmGO:190411510.7KIF1A, SPAST, SPG7
4midbodyGO:003049610.3KATNB1, SPAST, SPG20
5growth coneGO:003042610.2ALS2, KATNB1, L1CAM
6microtubuleGO:00058749.7DNAH8, KATNB1, KIF1A, KIF5A, SPAST
7early endosomeGO:00057699.6ALS2, HSPD1, NIPA1, WASHC5
8axonGO:00304249.5ALS2, ATL1, KATNB1, KIF1A, L1CAM, ZFYVE27
9neuronal cell bodyGO:00430259.1ALS2, KATNB1, KIF5A, L1CAM
10membraneGO:00160206.4AFG3L2, ALS2, ATL1, BSCL2, CYP7B1, HSPD1

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1anterograde axonal transportGO:000808910.5KIF1A, SPAST, SPG7
2mitochondrial calcium ion transportGO:000685110.5AFG3L2, SPG7
3microtubule severingGO:005101310.5KATNB1, SPAST
4lipid particle organizationGO:003438910.3BSCL2, SPG20
5axon developmentGO:006156410.3L1CAM, PLP1
6microtubule-based movementGO:000701810.2DNAH8, KIF1A, KIF5A
7axonogenesisGO:000740910.1AFG3L2, ALS2, ATL1, SPAST
8chaperone-mediated protein complex assemblyGO:005113110.1HSPD1, LONP1
9positive regulation of microtubule depolymerizationGO:00311179.9KATNB1, SPAST
10mitochondrion organizationGO:00070059.5AFG3L2, LONP1, SPG7

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1microtubule-severing ATPase activityGO:000856810.5KATNB1, SPAST
2microtubule motor activityGO:000377710.3DNAH8, KIF1A, KIF5A
3motor activityGO:000377410.2DNAH8, KIF1A, KIF5A
4microtubule bindingGO:000801710.1KATNB1, KIF1A, KIF5A, SPAST
5unfolded protein bindingGO:00510829.7AFG3L2, HSPD1, SPG7
6ATPase activityGO:00168879.6DNAH8, HSPD1, KIF1A, LONP1
7ATP bindingGO:00055248.7AFG3L2, DNAH8, HSPD1, KIF1A, KIF5A, LONP1

Sources for Hereditary Spastic Paraplegia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
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