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FSP
MCID: HRD010
MIFTS: 69

Hereditary Spastic Paraplegia (FSP)

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Hereditary Spastic Paraplegia

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MalaCards integrated aliases for Hereditary Spastic Paraplegia:

Name: Hereditary Spastic Paraplegia 38 12 76 24 53 54 37 29 6 15
Hereditary Spastic Paraparesis 12 24
Spastic Paraplegia, Hereditary 44 73
Familial Spastic Paraplegia 12 24
Spastic Paraplegia 3, Autosomal Dominant 73
Spastic Paraplegia Hereditary 55
Spastic Paraplegia, Familial 76
Familial Spastic Paraparesis 53
Strumpell-Lorrain Syndrome 24
French Settlement Disease 12
Strumpell-Lorrain Disease 12
Strumpelllorrain Disease 76
Fsp 53
Hsp 53

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Ear diseases Mental diseases Skin diseases Nephrological diseases Gastrointestinal diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:2476
ICD10 33 G11.4
ICD9CM 35 334.1
MeSH 44 D015419
SNOMED-CT 68 39912006 76043009
KEGG 37 H00266
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Summaries for Hereditary Spastic Paraplegia

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NINDS : 54 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 spastic paraplegia 20, autosomal recessive and spastic paraplegia 2, x-linked, and has symptoms including urgency of micturition, pain in lower limb and leg cramps. An important gene associated with Hereditary Spastic Paraplegia is SPG7 (SPG7, Paraplegin Matrix AAA Peptidase Subunit), and among its related pathways/superpathways is Endocytosis. The drugs Acetylcholine and Botulinum Toxins have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and eye, and related phenotypes are finger syndactyly and ataxia

Disease Ontology : 12 A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.

NIH Rare Diseases : 53 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. 

Wikipedia : 76 Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive... more...

GeneReviews: NBK1509
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Related Diseases for Hereditary Spastic Paraplegia

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Diseases in the Spastic Paraplegia 3a family:

Spastic Paraplegia 3, Autosomal Dominant Spastic Paraplegia 4, Autosomal Dominant
Spastic Paraplegia 17, Autosomal Dominant Spastic Paraplegia 15, Autosomal Recessive
Spastic Paraplegia 23 Spastic Paraplegia 5a, Autosomal Recessive
Spastic Paraplegia 20, Autosomal Recessive Spastic Paraplegia 6, Autosomal Dominant
Spastic Paraplegia 9a, Autosomal Dominant Spastic Paraplegia 8, Autosomal Dominant
Spastic Paraplegia 10, Autosomal Dominant Spastic Paraplegia 11, Autosomal Recessive
Spastic Paraplegia 12, Autosomal Dominant Spastic Paraplegia 14, Autosomal Recessive
Spastic Paraplegia 13, Autosomal Dominant Spastic Paraplegia 19, Autosomal Dominant
Spastic Paraplegia 7, Autosomal Recessive Spastic Paraplegia 24, Autosomal Recessive
Spastic Paraplegia 25, Autosomal Recessive Spastic Paraplegia 27, Autosomal Recessive
Spastic Paraplegia 26, Autosomal Recessive Spastic Paraplegia 28, Autosomal Recessive
Spastic Paraplegia 29, Autosomal Dominant Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 31, Autosomal Dominant Spastic Paraplegia 30, Autosomal Recessive
Spastic Paraplegia 18, Autosomal Recessive Spastic Paraplegia 32, Autosomal Recessive
Spastic Paraplegia 37, Autosomal Dominant Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 35, Autosomal Recessive Spastic Paraplegia 38, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant Spastic Paraplegia 50, Autosomal Recessive
Spastic Paraplegia 36, Autosomal Dominant Spastic Paraplegia 45, Autosomal Recessive
Spastic Paraplegia 44, Autosomal Recessive Spastic Paraplegia 41, Autosomal Dominant
Spastic Paraplegia 48, Autosomal Recessive Spastic Paraplegia 51, Autosomal Recessive
Spastic Paraplegia 47, Autosomal Recessive Spastic Paraplegia 52, Autosomal Recessive
Spastic Paraplegia 46, Autosomal Recessive Spastic Paraplegia 53, Autosomal Recessive
Spastic Paraplegia 56, Autosomal Recessive Spastic Paraplegia 49, Autosomal Recessive
Spastic Paraplegia 54, Autosomal Recessive Spastic Paraplegia 55, Autosomal Recessive
Spastic Paraplegia 43, Autosomal Recessive Spastic Paraplegia 79, Autosomal Recessive
Spastic Paraplegia 72, Autosomal Recessive Spastic Paraplegia 57, Autosomal Recessive
Spastic Paraplegia 62, Autosomal Recessive Spastic Paraplegia 64, Autosomal Recessive
Spastic Paraplegia 61, Autosomal Recessive Spastic Paraplegia 63, Autosomal Recessive
Spastic Paraplegia 73, Autosomal Dominant Spastic Paraplegia 74, Autosomal Recessive
Spastic Paraplegia 9b, Autosomal Recessive Spastic Paraplegia 75, Autosomal Recessive
Spastic Paraplegia 76, Autosomal Recessive Spastic Paraplegia 77, Autosomal Recessive
Spastic Paraplegia 78, Autosomal Recessive Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia 51 Hereditary Spastic Paraplegia 72
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 Type 49 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 Dominant Spastic Paraplegia Type 9b
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 312)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 20, autosomal recessive 34.2 SPART SPG7
2 spastic paraplegia 2, x-linked 34.0 ATL1 REEP1 ZFYVE27
3 spastic paraplegia 3, autosomal dominant 33.9 ATL1 NIPA1 REEP1 SPAST SPG11 ZFYVE27
4 spastic paraplegia 4, autosomal dominant 33.9 ATL1 NIPA1 REEP1 SPAST SPG11 SPG7
5 spastic paraplegia 15, autosomal recessive 33.9 SPG11 SPG7 ZFYVE26
6 spastic paraplegia 13, autosomal dominant 33.8 ATL1 HSPD1 SPAST WASHC5
7 spastic paraplegia 8, autosomal dominant 33.8 ATL1 NIPA1 REEP1 SPG11 WASHC5
8 spastic paraplegia 43, autosomal recessive 33.8 C19orf12 CYP7B1
9 spastic paraplegia 7, autosomal recessive 33.8 AFG3L2 SPG7
10 masa syndrome 33.7 ATL1 NIPA1 REEP1 SPART SPAST SPG11
11 spastic paraplegia 5a, autosomal recessive 33.7 C19orf12 CYP7B1
12 spastic paraplegia 32, autosomal recessive 33.7 ATL1 SPG11 SPG7
13 spastic paraplegia 18, autosomal recessive 33.7 NIPA1 REEP1 WASHC5
14 spastic paraplegia 61, autosomal recessive 33.7 ATL1 REEP1 SPAST
15 spastic paraplegia 39, autosomal recessive 33.6 REEP1 WASHC5 ZFYVE26
16 spastic paraplegia 42, autosomal dominant 33.6 NIPA1 REEP1 WASHC5
17 spastic paraplegia 49, autosomal recessive 33.6 SPG11 SPG7 ZFYVE26
18 spastic paraplegia 30, autosomal recessive 33.6 KIF1A REEP1 WASHC5
19 spastic paraplegia 24, autosomal recessive 33.6 CYP7B1 SPG7
20 spastic paraplegia 31, autosomal dominant 33.6 ATL1 REEP1 SPAST SPG11 ZFYVE27
21 spastic paraplegia 73, autosomal dominant 33.6 CYP7B1 GBA2 SPG7
22 spastic paraplegia 6, autosomal dominant 33.6 ATL1 KIF5A NIPA1 REEP1 SPAST
23 spastic paraplegia 12, autosomal dominant 33.6 ATL1 KIF5A REEP1 SPAST ZFYVE27
24 spastic paraplegia 10, autosomal dominant 33.6 ATL1 KIF5A REEP1 SPG11 ZFYVE27
25 spastic paraplegia 76, autosomal recessive 33.6 CYP7B1 GBA2 SPG7
26 spastic paraplegia 57, autosomal recessive 33.6 ALS2 SPG11
27 spastic paraplegia 48, autosomal recessive 33.6 SPG11 ZFYVE26
28 spastic paraplegia 46, autosomal recessive 33.5 GBA2 SPG11
29 spastic paraplegia 35, autosomal recessive 33.5 SPG11 ZFYVE26
30 spastic paraplegia 33, autosomal dominant 33.3 REEP1 SPART SPAST ZFYVE27
31 spastic paraplegia 47, autosomal recessive 33.3 REEP1 WASHC5
32 spastic paraplegia 5a 33.2 CYP7B1 GBA2
33 spasticity 32.8 DDHD1 KIF1A SPAST SPG7 WASHC5
34 paraplegia 32.4 ATL1 CYP7B1 DDHD1 HSPD1 KIF1A KIF5A
35 spastic paraplegia 10 32.4 KIF5A SPAST
36 lateral sclerosis 31.2 ALS2 KIF5A SPG11
37 axonal neuropathy 30.9 C19orf12 KIF5A SPG11
38 spastic paraparesis 30.6 DDHD1 SPAST SPG11 SPG7
39 3-methylglutaconic aciduria, type iii 30.5 AFG3L2 C19orf12 SPG7
40 hereditary spastic paraplegia 72 12.5
41 hereditary spastic paraplegia 51 12.4
42 spastic paraplegia 17, autosomal dominant 12.3
43 spastic paraplegia 11, autosomal recessive 12.3
44 spastic paraplegia 11 12.2
45 spastic paraplegia 26, autosomal recessive 12.2
46 spastic paraplegia 56, autosomal recessive 12.2
47 mast syndrome 12.2
48 kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome 12.2
49 spastic paraplegia 4 12.1
50 spastic paraplegia 23 12.1

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



Diseases related to Hereditary Spastic Paraplegia
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Symptoms & Phenotypes for Hereditary Spastic Paraplegia

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Human phenotypes related to Hereditary Spastic Paraplegia:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 finger syndactyly 32 occasional (7.5%) HP:0006101
2 ataxia 32 frequent (33%) HP:0001251
3 spasticity 32 hallmark (90%) HP:0001257
4 gait disturbance 32 hallmark (90%) HP:0001288
5 impaired pain sensation 32 hallmark (90%) HP:0007328
6 paraplegia 32 hallmark (90%) HP:0010550

UMLS symptoms related to Hereditary Spastic Paraplegia:


urgency of micturition, pain in lower limb, leg cramps

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 10 GBA2
2 Decreased viability GR00381-A-1 10 GBA2
3 Decreased viability GR00402-S-2 10 AFG3L2 ALS2 ATL1 C19orf12 CYP7B1 DDHD1
4 no effect GR00402-S-1 9.62 AFG3L2 ALS2 ATL1 C19orf12 CYP7B1 DDHD1

MGI Mouse Phenotypes related to Hereditary Spastic Paraplegia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 AFG3L2 ALS2 ATL1 HSPD1 KIF1A KIF5A
2 nervous system MP:0003631 9.36 AFG3L2 ALS2 HSPD1 KIF1A KIF5A KY
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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 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 2, Phase 3 51-84-3 187
2 Botulinum Toxins Phase 2, Phase 3
3 Acetylcholine Release Inhibitors Phase 2, Phase 3
4 Cholinergic Agents Phase 2, Phase 3
5 Neurotransmitter Agents Phase 2, Phase 3
6
Creatine Approved, Investigational, Nutraceutical 57-00-1 586
7
Choline Approved, Nutraceutical 62-49-7 305
8 N-Methylaspartate
9 Aspartic Acid

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia Completed NCT02604186 Phase 2, Phase 3
2 Repetitive Transcranial Magnetic Stimulation as Therapy in Hereditary Spastic Paraplegia and Adrenomyeloneuropathy Completed NCT03627416 Not Applicable
3 Nuclear Magnetic Spectroscopy Imaging to Evaluate Primary Lateral Sclerosis, Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis Completed NCT00023075
4 Studying Cognition in SPG4 Completed NCT03104088
5 Validation of Biomarkers in Amyotrophic Lateral Sclerosis (ALS) Completed NCT00677768
6 Disease Natural History and Biomarkers of SPG3A, SPG4A, and SPG31 Recruiting NCT02859428
7 Studying Non-motor Symptoms in HSP Recruiting NCT03204773
8 The Pre-SPG4 Study Recruiting NCT03206190 Not Applicable
9 Phenotype, Genotype & Biomarkers in ALS and Related Disorders Recruiting NCT02327845
10 Genetic and Physical Study of Childhood Nerve and Muscle Disorders Recruiting NCT01568658
11 A Patient Centric Motor Neuron Disease Activities of Daily Living Scale Enrolling by invitation NCT02852278

Search NIH Clinical Center for Hereditary Spastic Paraplegia

Cochrane evidence based reviews: spastic paraplegia, hereditary

Sources

Genetic Tests for Hereditary Spastic Paraplegia

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Genetic tests related to Hereditary Spastic Paraplegia:

# Genetic test Affiliating Genes
1 Hereditary Spastic Paraplegia 29
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Anatomical Context for Hereditary Spastic Paraplegia

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MalaCards organs/tissues related to Hereditary Spastic Paraplegia:

41
Brain, Spinal Cord, Eye, Testes, Retina, Bone, Heart
Sources

Publications for Hereditary Spastic Paraplegia

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Articles related to Hereditary Spastic Paraplegia:

(show top 50) (show all 638)
# Title Authors Year
1
ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis. ( 30081747 )
2019
2
Pathogenic Variant of REEP1 in a Korean Family with Autosomal-Dominant Hereditary Spastic Paraplegia. ( 29629531 )
2018
3
A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia. ( 29528531 )
2018
4
Resting state fMRI studies in SPG4-linked hereditary spastic paraplegia. ( 29249364 )
2018
5
Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients. ( 29934652 )
2018
6
Quantification of dysarthrI?phonia in a Cypriot family with autosomal recessive hereditary spastic paraplegia associated with a homozygous SPG11 mutation. ( 29804168 )
2018
7
A hereditary spastic paraplegia-associated atlastin variant exhibits defective allosteric coupling in the catalytic core. ( 29180453 )
2018
8
CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56. ( 29034544 )
2018
9
Reply: POLR3A variants in hereditary spastic paraplegia and ataxia. ( 29236946 )
2018
10
<i>ACO2</i> homozygous missense mutation associated with complicated hereditary spastic paraplegia. ( 29577077 )
2018
11
Hereditary spastic paraplegia. ( 29478605 )
2018
12
GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia. ( 29882329 )
2018
13
Anesthetic Considerations for Ivor-Lewis Esophagectomy in a Patient With Hereditary Spastic Paraplegia: A Case Report. ( 29851689 )
2018
14
Identification of IFRD1 variant in a Han Chinese family with autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia. ( 29362493 )
2018
15
Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment. ( 29915212 )
2018
16
Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia. ( 29754261 )
2018
17
<i>CAPN1</i> mutations broadening the hereditary spastic paraplegia/spinocerebellar ataxia phenotype. ( 29678961 )
2018
18
Subtle Imaging Findings Aid the Diagnosis of Adolescent Hereditary Spastic Paraplegia and Ataxia. ( 29379980 )
2018
19
Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span. ( 29544888 )
2018
20
Botulinum toxin for hereditary spastic paraplegia: effects on motor and non-motor manifestations. ( 29809239 )
2018
21
A novel pathogenic variant of the SPAST gene in a Spanish family with hereditary spastic paraplegia. ( 29526314 )
2018
22
POLR3A variants in hereditary spastic paraplegia and ataxia. ( 29228109 )
2018
23
Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia. ( 29481671 )
2018
24
Differential changes in the spinal segmental locomotor output in Hereditary Spastic Paraplegia. ( 29353180 )
2018
25
Gait phenotypes in paediatric hereditary spastic paraplegia revealed by dynamic time warping analysis and random forests. ( 29518090 )
2018
26
Novel Type of Complicated Autosomal Dominant Hereditary Spastic Paraplegia Associated with Congenital Distal Arthrogryposis Type I. ( 30029526 )
2018
27
BICD2 mutational analysis in hereditary spastic paraplegia and hereditary motor and sensory neuropathy. ( 30536747 )
2018
28
Missense mutation of SPAST protein (I344K) results in loss of ATPase activity and prolonged the half-life, implicated in autosomal dominant hereditary spastic paraplegia. ( 30006150 )
2018
29
Mutation in KIF5A c.610C>T Causing Hereditary Spastic Paraplegia with Axonal Sensorimotor Neuropathy. ( 30057544 )
2018
30
Pathogenic TFG Mutations Underlying Hereditary Spastic Paraplegia Impair Secretory Protein Trafficking and Axon Fasciculation. ( 30157421 )
2018
31
Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations. ( 30198554 )
2018
32
RNASEH2B Pathogenic Gene Variant in Uncomplicated Hereditary Spastic Paraplegia: Report of a New Patient. ( 30223285 )
2018
33
Tensor-based morphometry using scalar and directional information of diffusion tensor MRI data (DTBM): Application to hereditary spastic paraplegia. ( 30253021 )
2018
34
PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia. ( 30302010 )
2018
35
Locus and allelic heterogeneity in five families with hereditary spastic paraplegia. ( 30337681 )
2018
36
Structural consequences of hereditary spastic paraplegia disease-related mutations in kinesin. ( 30366951 )
2018
37
Novel Pathogenic Variant of SPAST (c.1413+4A>G) in a Patient with Hereditary Spastic Paraplegia. ( 30375765 )
2018
38
Triple A syndrome presenting as complicated hereditary spastic paraplegia. ( 30381913 )
2018
39
Correction: PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia. ( 30410098 )
2018
40
Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia. ( 30411208 )
2018
41
Mobile Gait Analysis using Personalised Hidden Markov Models for Hereditary Spastic Paraplegia Patients. ( 30441565 )
2018
42
Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient. ( 30446360 )
2018
43
Urinary symptoms, quality of life, and patient satisfaction in genetic and sporadic hereditary spastic paraplegia. ( 30467602 )
2018
44
Autonomic dysfunction in hereditary spastic paraplegia type 4. ( 30489674 )
2018
45
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report. ( 30497413 )
2018
46
Hereditary Spastic Paraplegia: gain-of-function mechanisms revealed by new transgenic mouse. ( 30520996 )
2018
47
Loss of Enzyme Activity in Mutated B4GALNT1 Gene Products in Patients with Hereditary Spastic Paraplegia Results in Relatively Mild Neurological Disorders: Similarity with Phenotypes of B4galnt1 Knockout Mice. ( 30521973 )
2018
48
Hereditary Spastic Paraplegia Type 35 with a Novel Mutation in Fatty Acid 2-Hydroxylase Gene and Literature Review of the Clinical Features. ( 30532373 )
2018
49
Three novel mutations in 20 patients with hereditary spastic paraparesis. ( 29907907 )
2018
50
Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis. ( 30555096 )
2018
Sources

Variations for Hereditary Spastic Paraplegia

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ClinVar genetic disease variations for Hereditary Spastic Paraplegia:

6 (show top 50) (show all 184)
# Gene Variation Type Significance SNP ID Assembly Location
1 SPG11 NM_025137.3(SPG11): c.733_734delAT (p.Met245Valfs) deletion Pathogenic rs312262720 GRCh37 Chromosome 15, 44949428: 44949429
2 SPG11 NM_025137.3(SPG11): c.733_734delAT (p.Met245Valfs) deletion Pathogenic rs312262720 GRCh38 Chromosome 15, 44657230: 44657231
3 NIPA1 NM_144599.4(NIPA1): c.316G> A (p.Gly106Arg) single nucleotide variant Pathogenic rs104894490 GRCh37 Chromosome 15, 23060816: 23060816
4 NIPA1 NM_144599.4(NIPA1): c.316G> A (p.Gly106Arg) single nucleotide variant Pathogenic rs104894490 GRCh38 Chromosome 15, 22812252: 22812252
5 CYP7B1 NM_004820.4(CYP7B1): c.825T> A (p.Tyr275Ter) single nucleotide variant Pathogenic rs121908613 GRCh37 Chromosome 8, 65528273: 65528273
6 CYP7B1 NM_004820.4(CYP7B1): c.825T> A (p.Tyr275Ter) single nucleotide variant Pathogenic rs121908613 GRCh38 Chromosome 8, 64615716: 64615716
7 CYP7B1 NM_004820.4(CYP7B1): c.1456C> T (p.Arg486Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs116171274 GRCh37 Chromosome 8, 65509264: 65509264
8 CYP7B1 NM_004820.4(CYP7B1): c.1456C> T (p.Arg486Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs116171274 GRCh38 Chromosome 8, 64596707: 64596707
9 KIF5A NM_004984.3(KIF5A): c.839G> A (p.Arg280His) single nucleotide variant Conflicting interpretations of pathogenicity rs387907288 GRCh37 Chromosome 12, 57963058: 57963058
10 KIF5A NM_004984.3(KIF5A): c.839G> A (p.Arg280His) single nucleotide variant Conflicting interpretations of pathogenicity rs387907288 GRCh38 Chromosome 12, 57569275: 57569275
11 GBA2 NM_020944.2(GBA2): c.1888C> T (p.Arg630Trp) single nucleotide variant Pathogenic rs398123012 GRCh37 Chromosome 9, 35738808: 35738808
12 GBA2 NM_020944.2(GBA2): c.1888C> T (p.Arg630Trp) single nucleotide variant Pathogenic rs398123012 GRCh38 Chromosome 9, 35738811: 35738811
13 GBA2 NM_020944.2(GBA2): c.2618G> A (p.Arg873His) single nucleotide variant Pathogenic rs398123015 GRCh37 Chromosome 9, 35737332: 35737332
14 GBA2 NM_020944.2(GBA2): c.2618G> A (p.Arg873His) single nucleotide variant Pathogenic rs398123015 GRCh38 Chromosome 9, 35737335: 35737335
15 SPG7 NM_003119.3(SPG7): c.1529C> T (p.Ala510Val) single nucleotide variant Conflicting interpretations of pathogenicity rs61755320 GRCh37 Chromosome 16, 89613145: 89613145
16 SPG7 NM_003119.3(SPG7): c.1529C> T (p.Ala510Val) single nucleotide variant Conflicting interpretations of pathogenicity rs61755320 GRCh38 Chromosome 16, 89546737: 89546737
17 SPG11 NM_025137.3(SPG11): c.3818A> G (p.Lys1273Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs76389165 GRCh37 Chromosome 15, 44890903: 44890903
18 SPG11 NM_025137.3(SPG11): c.3818A> G (p.Lys1273Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs76389165 GRCh38 Chromosome 15, 44598705: 44598705
19 C19orf12 NM_001031726.3(C19orf12): c.157G> A (p.Gly53Arg) single nucleotide variant Pathogenic/Likely pathogenic rs200133991 GRCh38 Chromosome 19, 29708290: 29708290
20 C19orf12 NM_001031726.3(C19orf12): c.157G> A (p.Gly53Arg) single nucleotide variant Pathogenic/Likely pathogenic rs200133991 GRCh37 Chromosome 19, 30199197: 30199197
21 DDHD2 NM_015214.2(DDHD2): c.1249_1891del deletion Likely pathogenic
22 KIF1A NM_001244008.1(KIF1A): c.206C> T (p.Ser69Leu) single nucleotide variant Pathogenic rs786200949 GRCh37 Chromosome 2, 241727625: 241727625
23 KIF1A NM_001244008.1(KIF1A): c.206C> T (p.Ser69Leu) single nucleotide variant Pathogenic rs786200949 GRCh38 Chromosome 2, 240788208: 240788208
24 NIPA1 NM_144599.4(NIPA1): c.42_47dupGGCGGC (p.Ala16_Gly17insAlaAla) duplication Conflicting interpretations of pathogenicity rs549007670 GRCh37 Chromosome 15, 23086365: 23086370
25 NIPA1 NM_144599.4(NIPA1): c.42_47dupGGCGGC (p.Ala16_Gly17insAlaAla) duplication Conflicting interpretations of pathogenicity rs549007670 GRCh38 Chromosome 15, 22786698: 22786703
26 SACS NM_014363.5(SACS): c.13717A> C (p.Asn4573His) single nucleotide variant Conflicting interpretations of pathogenicity rs34382952 GRCh37 Chromosome 13, 23904298: 23904298
27 SACS NM_014363.5(SACS): c.13717A> C (p.Asn4573His) single nucleotide variant Conflicting interpretations of pathogenicity rs34382952 GRCh38 Chromosome 13, 23330159: 23330159
28 KIF1C NM_006612.5(KIF1C): c.2734C> T (p.Arg912Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs202232792 GRCh37 Chromosome 17, 4926868: 4926868
29 KIF1C NM_006612.5(KIF1C): c.2734C> T (p.Arg912Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs202232792 GRCh38 Chromosome 17, 5023573: 5023573
30 SPG7 NM_003119.3(SPG7): c.1933T> A (p.Ser645Thr) single nucleotide variant Uncertain significance rs2099104 GRCh37 Chromosome 16, 89619540: 89619540
31 SPG7 NM_003119.3(SPG7): c.1933T> A (p.Ser645Thr) single nucleotide variant Uncertain significance rs2099104 GRCh38 Chromosome 16, 89553132: 89553132
32 BICD2 NM_001003800.1(BICD2): c.269A> G (p.Lys90Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs61754130 GRCh37 Chromosome 9, 95491490: 95491490
33 BICD2 NM_001003800.1(BICD2): c.269A> G (p.Lys90Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs61754130 GRCh38 Chromosome 9, 92729208: 92729208
34 SACS NM_014363.5(SACS): c.1373C> T (p.Thr458Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs61729954 GRCh37 Chromosome 13, 23929378: 23929378
35 SACS NM_014363.5(SACS): c.1373C> T (p.Thr458Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs61729954 GRCh38 Chromosome 13, 23355239: 23355239
36 ALS2 NM_020919.3(ALS2): c.3206G> A (p.Gly1069Glu) single nucleotide variant Uncertain significance rs200706696 GRCh38 Chromosome 2, 201726526: 201726526
37 ALS2 NM_020919.3(ALS2): c.3206G> A (p.Gly1069Glu) single nucleotide variant Uncertain significance rs200706696 GRCh37 Chromosome 2, 202591249: 202591249
38 GAD1 NM_000817.2(GAD1): c.1252G> T (p.Val418Phe) single nucleotide variant Uncertain significance rs143058194 GRCh38 Chromosome 2, 170852781: 170852781
39 GAD1 NM_000817.2(GAD1): c.1252G> T (p.Val418Phe) single nucleotide variant Uncertain significance rs143058194 GRCh37 Chromosome 2, 171709291: 171709291
40 SACS NM_014363.5(SACS): c.1640C> T (p.Pro547Leu) single nucleotide variant Uncertain significance rs140507581 GRCh38 Chromosome 13, 23354972: 23354972
41 SACS NM_014363.5(SACS): c.1640C> T (p.Pro547Leu) single nucleotide variant Uncertain significance rs140507581 GRCh37 Chromosome 13, 23929111: 23929111
42 SACS NM_014363.5(SACS): c.5629C> T (p.Arg1877Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs761089024 GRCh37 Chromosome 13, 23912386: 23912386
43 SACS NM_014363.5(SACS): c.5629C> T (p.Arg1877Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs761089024 GRCh38 Chromosome 13, 23338247: 23338247
44 SPG7 NM_003119.3(SPG7): c.1447C> T (p.Gln483Ter) single nucleotide variant Pathogenic/Likely pathogenic rs562890289 GRCh37 Chromosome 16, 89611178: 89611178
45 SPG7 NM_003119.3(SPG7): c.1447C> T (p.Gln483Ter) single nucleotide variant Pathogenic/Likely pathogenic rs562890289 GRCh38 Chromosome 16, 89544770: 89544770
46 KY NM_178554.4(KY): c.51_52insTATCGACATGTGCTGTATCTATCGACAT (p.Val18Tyrfs) insertion Pathogenic rs1085307110 GRCh37 Chromosome 3, 134369751: 134369752
47 KY NM_178554.4(KY): c.51_52insTATCGACATGTGCTGTATCTATCGACAT (p.Val18Tyrfs) insertion Pathogenic rs1085307110 GRCh38 Chromosome 3, 134650909: 134650910
48 ALS2 NM_020919.3(ALS2): c.3746T> C (p.Phe1249Ser) single nucleotide variant Uncertain significance rs551822626 GRCh38 Chromosome 2, 201718167: 201718167
49 ALS2 NM_020919.3(ALS2): c.3746T> C (p.Phe1249Ser) single nucleotide variant Uncertain significance rs551822626 GRCh37 Chromosome 2, 202582890: 202582890
50 SPG7 NM_003119.3(SPG7): c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) deletion Conflicting interpretations of pathogenicity rs768823392 GRCh38 Chromosome 16, 89546662: 89546670

Copy number variations for Hereditary Spastic Paraplegia from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 144964 2 32142183 32236210 Deletion SPAST hereditary spastic paraplegia
Sources

Expression for Hereditary Spastic Paraplegia

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

Pathways for Hereditary Spastic Paraplegia

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

# Super pathways Score Top Affiliating Genes
1
Endocytosis 37
11.31 KIF5A SPART WASHC5 ZFYVE27
Sources

GO Terms for Hereditary Spastic Paraplegia

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.88 ATL1 CYP7B1 GBA2 REEP1 SPAST ZFYVE27
2 endoplasmic reticulum GO:0005783 9.86 ATL1 C19orf12 CYP7B1 GBA2 REEP1 SPAST
3 neuron projection GO:0043005 9.8 ALS2 KIF1A KIF5A WASHC5
4 neuronal cell body GO:0043025 9.78 ALS2 KIF1A KIF5A WASHC5
5 axon GO:0030424 9.72 ALS2 ATL1 KIF1A SPG11 ZFYVE27
6 early endosome GO:0005769 9.67 ALS2 HSPD1 NIPA1 WASHC5
7 midbody GO:0030496 9.63 SPART SPAST ZFYVE26
8 m-AAA complex GO:0005745 9.16 AFG3L2 SPG7
9 endoplasmic reticulum tubular network GO:0071782 9.13 ATL1 REEP1 ZFYVE27
10 axon cytoplasm GO:1904115 8.92 KIF1A KIF5A SPAST SPG7
11 cytoplasm GO:0005737 10.25 ALS2 ATL1 DDHD1 HSPD1 KIF1A KIF5A

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion organization GO:0007005 9.43 AFG3L2 HSPD1 SPG7
2 mitochondrial calcium ion transmembrane transport GO:0006851 9.4 AFG3L2 SPG7
3 synaptic vesicle transport GO:0048489 9.37 KIF5A SPG11
4 mitochondrial calcium ion homeostasis GO:0051560 9.32 AFG3L2 C19orf12
5 retrograde neuronal dense core vesicle transport GO:1990049 9.16 KIF1A KIF5A
6 anterograde axonal transport GO:0008089 9.13 KIF1A SPAST SPG7
7 axonogenesis GO:0007409 8.92 AFG3L2 ALS2 ATL1 SPAST

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

# Name GO ID Score Top Affiliating Genes
1 ATPase activity GO:0016887 9.46 HSPD1 KIF1A KIF5A SPAST
2 unfolded protein binding GO:0051082 9.43 AFG3L2 HSPD1 SPG7
3 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 9.32 KIF1A KIF5A
4 microtubule binding GO:0008017 9.26 KIF1A KIF5A REEP1 SPAST
5 hydrolase activity GO:0016787 9.23 AFG3L2 ATL1 DDHD1 GBA2 HSPD1 KY
Sources

Sources for Hereditary Spastic Paraplegia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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