MCID: PRH002
MIFTS: 22

Pure Hereditary Spastic Paraplegia

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Pure Hereditary Spastic Paraplegia

MalaCards integrated aliases for Pure Hereditary Spastic Paraplegia:

Name: Pure Hereditary Spastic Paraplegia 58
Uncomplicated Hereditary Spastic Paraplegia 58
Uncomplicated Familial Spastic Paraplegia 58
Pure Familial Spastic Paraplegia 58
Uncomplicated Hsp 58
Uncomplicated Spg 58
Pure Hsp 58
Pure Spg 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G11.4
UMLS via Orphanet 72 C0393555
Orphanet 58 ORPHA102012

Summaries for Pure Hereditary Spastic Paraplegia

MalaCards based summary : Pure Hereditary Spastic Paraplegia, also known as uncomplicated hereditary spastic paraplegia, is related to spastic paraplegia 31, autosomal dominant and spastic paraplegia 14, autosomal recessive. An important gene associated with Pure Hereditary Spastic Paraplegia is SPAST (Spastin). Affiliated tissues include brain.

Related Diseases for Pure Hereditary Spastic Paraplegia

Diseases in the Pure Hereditary Spastic Paraplegia family:

Autosomal Recessive Pure Spastic Paraplegia Autosomal Dominant Pure Spastic Paraplegia

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

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 31, autosomal dominant 31.5 SPAST RTN2 NIPA1 KIF5A ATL1
2 spastic paraplegia 14, autosomal recessive 30.3 SPAST ATL1
3 spastic paraplegia 5a, autosomal recessive 30.3 SPAST KIF5A
4 spastic paraplegia 10 30.2 SPG19 KIF5A
5 spastic paraplegia 18, autosomal recessive 29.9 NIPA1 KIF5A ERLIN2
6 spastic paraplegia 3, autosomal dominant 29.5 SPAST RTN2 NIPA1 ATL1
7 hereditary spastic paraplegia 72 29.4 SPAST RTN2 ERLIN2 ATL1
8 spastic paraplegia 6, autosomal dominant 29.2 SPAST NIPA1 KIF5A ERLIN2 ATL1
9 spastic paraplegia 10, autosomal dominant 29.1 SPAST RTN2 NIPA1 KIF5A ATL1
10 paraplegia 29.1 SPAST RTN2 PLP1 NIPA1 KIF5A ERLIN2
11 spastic paraplegia 4, autosomal dominant 29.0 SPAST RTN2 NIPA1 KIF5A ERLIN2 ATL1
12 spastic paraplegia 12, autosomal dominant 28.9 SPAST RTN2 NIPA1 KIF5A ATL1
13 spastic paraplegia 2, x-linked 28.5 SPAST RTN2 PLP1 KIF5A ERLIN2 ATL1
14 hereditary spastic paraplegia 27.1 SPG24 SPG19 SPAST RTN2 PLP1 NIPA1
15 spastic paraplegia 4 11.8
16 spastic paraplegia 3a 11.8
17 spastic paraplegia 8 11.5
18 infantile-onset ascending hereditary spastic paralysis 11.5
19 spastic paraplegia 5a 11.5
20 autosomal recessive pure spastic paraplegia 11.4
21 autosomal dominant pure spastic paraplegia 11.4
22 familial spastic paralysis 11.4
23 spasticity 10.6
24 spastic paraplegia 7, autosomal recessive 10.2
25 x-linked complicated spastic paraplegia type 1 10.2
26 neuropathy, hereditary sensory, type id 10.1 KIF5A ATL1
27 spastic paraplegia 37, autosomal dominant 10.1
28 spastic paraplegia 57, autosomal recessive 10.1 KIF5A ERLIN2
29 pelizaeus-merzbacher disease 10.1
30 ataxia and polyneuropathy, adult-onset 10.1
31 branchiootic syndrome 1 10.1
32 spastic paraplegia 19, autosomal dominant 10.1
33 spastic paraplegia 24, autosomal recessive 10.1
34 spastic paraplegia 72, autosomal recessive 10.1
35 spastic paraplegia 73, autosomal dominant 10.1
36 spastic paraplegia 76, autosomal recessive 10.1
37 autosomal dominant cerebellar ataxia 10.1
38 pathologic nystagmus 10.1
39 spastic paraparesis 10.1
40 spastic paraplegia 12 10.1
41 spastic paraplegia 14 10.1
42 spastic paraplegia 18 10.1
43 spastic paraplegia 19 10.1
44 x-linked pure spastic paraplegia 10.1
45 spastic paraplegia 39, autosomal recessive 10.1 SPAST ATL1
46 spastic paraplegia 6 10.0
47 neuropathy, hereditary sensory, type iic 10.0 RTN2 ERLIN2
48 spastic paraplegia 44, autosomal recessive 10.0 PLP1 ERLIN2
49 spastic paraplegia 43, autosomal recessive 10.0 SPAST ERLIN2 ATL1
50 autosomal dominant non-syndromic intellectual disability 9 10.0 RTN2 KIF5A

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



Diseases related to Pure Hereditary Spastic Paraplegia

Symptoms & Phenotypes for Pure Hereditary Spastic Paraplegia

Drugs & Therapeutics for Pure Hereditary Spastic Paraplegia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Improving Gait Adaptability in Hereditary Spastic Paraplegia During Task-specific Training on the C-Mill: Towards Evidence-Based and Individually Tailored Rehabilitation Recruiting NCT04180098

Search NIH Clinical Center for Pure Hereditary Spastic Paraplegia

Genetic Tests for Pure Hereditary Spastic Paraplegia

Anatomical Context for Pure Hereditary Spastic Paraplegia

MalaCards organs/tissues related to Pure Hereditary Spastic Paraplegia:

40
Brain

Publications for Pure Hereditary Spastic Paraplegia

Articles related to Pure Hereditary Spastic Paraplegia:

(show all 50)
# Title Authors PMID Year
1
Is NIPA1-associated hereditary spastic paraplegia always 'pure'? Further evidence of motor neurone disease and epilepsy as rare manifestations. 61
32500351 2020
2
A Japanese SPG4 Patient with a Confirmed De Novo Mutation of the SPAST Gene. 61
32522921 2020
3
Experienced complaints, activity limitations and loss of motor capacities in patients with pure hereditary spastic paraplegia: a web-based survey in the Netherlands. 61
32131864 2020
4
Ascending Axonal Degeneration of the Corticospinal Tract in Pure Hereditary Spastic Paraplegia: A Cross-Sectional DTI Study. 61
31601037 2019
5
Functional effects of botulinum toxin type A in the hip adductors and subsequent stretching in patients with hereditary spastic paraplegia. 61
30968942 2019
6
A Novel Homozygous CAPN1 Pathogenic Variant in a Chinese Patient with Pure Hereditary Spastic Paraplegia. 61
30938113 2019
7
A novel CPT1C variant causes pure hereditary spastic paraplegia with benign clinical course. 61
30911584 2019
8
A Novel CAPN1 Mutation Causes a Pure Hereditary Spastic Paraplegia in an Italian Family. 61
31231303 2019
9
StartReact during gait initiation reveals differential control of muscle activation and inhibition in patients with corticospinal degeneration. 61
30155740 2018
10
A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia. 61
29528531 2018
11
Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation. 61
28818478 2017
12
De novo REEP2 missense mutation in pure hereditary spastic paraplegia. 61
28491902 2017
13
Novel Mutations in Endoplasmic Reticulum Lipid Raft-associated Protein 2 Gene Cause Pure Hereditary Spastic Paraplegia Type 18. 61
27824013 2016
14
SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia. 61
27334366 2016
15
A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings. 61
27260292 2016
16
Microarray analysis unmasked two siblings with pure hereditary spastic paraplegia shared a run of homozygosity region on chromosome 3q28-q29. 61
26671141 2015
17
Mutation analysis of four Chinese families with pure hereditary spastic paraplegia: pseudo- X-linked dominant inheritance and male lethality due to a novel ATL1 mutation. 61
26600529 2015
18
Robot-assisted gait training in a patient with hereditary spastic paraplegia. 61
25255290 2015
19
Functional effects of botulinum toxin type-A treatment and subsequent stretching of spastic calf muscles: a study in patients with hereditary spastic paraplegia. 61
25325386 2015
20
The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview. 61
25413954 2015
21
Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia. 61
24824479 2014
22
Brain white matter involvement in hereditary spastic paraplegias: analysis with multiple diffusion tensor indices. 61
24788132 2014
23
Zebrafish models of human motor neuron diseases: advantages and limitations. 61
24705136 2014
24
StartReact restores reaction time in HSP: evidence for subcortical release of a motor program. 61
24381288 2014
25
Pure hereditary spastic paraplegia due to a de novo mutation in the NIPA1 gene. 61
25133278 2014
26
Axonal integrity of corticospinal projections to the upper limbs in patients with pure hereditary spastic paraplegia. 61
21195663 2011
27
Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia. 61
20550563 2011
28
Specific pattern of early white-matter changes in pure hereditary spastic paraplegia. 61
20669295 2010
29
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. 61
19439420 2009
30
Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia. 61
16684598 2006
31
All neuropathies great and small. 61
16276409 2005
32
The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B. 61
15537668 2005
33
Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia. 61
15452312 2004
34
A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14. 61
12499481 2002
35
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34. 61
12112072 2002
36
Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. 61
11898127 2002
37
Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. 61
11309678 2001
38
A large Japanese SPG4 family with a novel insertion mutation of the SPG4 gene: a clinical and genetic study. 61
11266693 2001
39
A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13. 61
10677333 2000
40
Autosomal dominant spastic paraplegia: refined SPG8 locus and additional genetic heterogeneity. 61
10563637 1999
41
Subclinical cognitive impairment in autosomal dominant "pure" hereditary spastic paraplegia. 61
10528866 1999
42
A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity. 61
10441583 1999
43
Locus-phenotype correlations in autosomal dominant pure hereditary spastic paraplegia. A clinical and molecular genetic study of 28 United Kingdom families. 61
10468513 1999
44
Pure hereditary spastic paraplegia. 61
9192272 1997
45
Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia. 61
8780101 1996
46
Sensory neuropathy in hereditary spastic paraplegia. 61
8006649 1994
47
Choreas, hereditary and other ataxias, tics, myoclonus, and other movement disorders. 61
8507906 1993
48
X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus. 61
8320699 1993
49
Hereditary "pure" spastic paraplegia: a study of nine families. 61
8382269 1993
50
Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study. 61
2043954 1991

Variations for Pure Hereditary Spastic Paraplegia

Expression for Pure Hereditary Spastic Paraplegia

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

Pathways for Pure Hereditary Spastic Paraplegia

GO Terms for Pure Hereditary Spastic Paraplegia

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.26 SPAST RTN2 ERLIN2 ATL1
2 axon cytoplasm GO:1904115 8.62 SPAST KIF5A

Sources for Pure Hereditary Spastic Paraplegia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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