MCID: PRH002
MIFTS: 21

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 10. An important gene associated with Pure Hereditary Spastic Paraplegia is SPAST (Spastin).

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 31.1 SPAST RTN2 NIPA1 KIF5A ATL1
2 spastic paraplegia 10 30.3 SPG19 KIF5A
3 spastic paraplegia 14, autosomal recessive 30.3 SPAST ATL1
4 spastic paraplegia 5a, autosomal recessive 30.2 SPAST KIF5A
5 spastic paraplegia 18, autosomal recessive 30.0 NIPA1 KIF5A ERLIN2
6 paraplegia 29.7 SPAST RTN2 PLP1 NIPA1 KIF5A ERLIN2
7 spastic paraplegia 6, autosomal dominant 29.7 SPAST NIPA1 KIF5A ATL1
8 spastic paraplegia 3, autosomal dominant 29.7 SPAST RTN2 NIPA1 ATL1
9 hereditary spastic paraplegia 72 29.6 SPAST RTN2 ERLIN2 ATL1
10 spastic paraplegia 4, autosomal dominant 29.5 SPAST RTN2 NIPA1 KIF5A ERLIN2 ATL1
11 spastic paraplegia 10, autosomal dominant 29.4 SPAST RTN2 NIPA1 KIF5A ATL1
12 spastic paraplegia 12, autosomal dominant 29.2 SPAST RTN2 NIPA1 KIF5A ATL1
13 spastic paraplegia 2, x-linked 29.1 SPAST RTN2 PLP1 KIF5A ERLIN2 ATL1
14 hereditary spastic paraplegia 28.3 SPG24 SPG19 SPAST RTN2 PLP1 NIPA1
15 spastic paraplegia 4 11.3
16 spastic paraplegia 3a 11.3
17 infantile-onset ascending hereditary spastic paralysis 11.3
18 spastic paraplegia 5a 11.3
19 autosomal recessive pure spastic paraplegia 11.2
20 autosomal dominant pure spastic paraplegia 11.2
21 familial spastic paralysis 11.1
22 spasticity 10.6
23 ataxia and polyneuropathy, adult-onset 10.2
24 spastic paraplegia 7, autosomal recessive 10.2
25 autosomal dominant cerebellar ataxia 10.2
26 x-linked complicated spastic paraplegia type 1 10.2
27 spastic paraplegia 41, autosomal dominant 10.2 SPAST KIF5A
28 spastic paraplegia 37, autosomal dominant 10.1
29 pelizaeus-merzbacher disease 10.1
30 branchiootic syndrome 1 10.1
31 spastic paraplegia 19, autosomal dominant 10.1
32 spastic paraplegia 24, autosomal recessive 10.1
33 spastic paraplegia 72, autosomal recessive 10.1
34 spastic paraplegia 73, autosomal dominant 10.1
35 spastic paraplegia 76, autosomal recessive 10.1
36 hydrocephalus 10.1
37 pathologic nystagmus 10.1
38 congenital hydrocephalus 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 57, autosomal recessive 10.1 KIF5A ERLIN2
46 spastic paraplegia 6 10.1
47 spastic paraplegia 44, autosomal recessive 10.0 PLP1 ERLIN2
48 spastic paraplegia 39, autosomal recessive 10.0 SPAST ATL1
49 neuropathy, hereditary sensory, type id 10.0 SPAST KIF5A ATL1
50 neuropathy, hereditary sensory, type iic 10.0 RTN2 ERLIN2

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

Search Clinical Trials , NIH Clinical Center for Pure Hereditary Spastic Paraplegia

Genetic Tests for Pure Hereditary Spastic Paraplegia

Anatomical Context for Pure Hereditary Spastic Paraplegia

Publications for Pure Hereditary Spastic Paraplegia

Articles related to Pure Hereditary Spastic Paraplegia:

(show top 50) (show all 53)
# Title Authors PMID Year
1
A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report. 61
33602173 2021
2
Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4. 61
33507371 2021
3
Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutations. 61
33085208 2020
4
Is NIPA1-associated hereditary spastic paraplegia always 'pure'? Further evidence of motor neurone disease and epilepsy as rare manifestations. 61
32500351 2020
5
A Japanese SPG4 Patient with a Confirmed De Novo Mutation of the SPAST Gene. 61
32522921 2020
6
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
7
Ascending Axonal Degeneration of the Corticospinal Tract in Pure Hereditary Spastic Paraplegia: A Cross-Sectional DTI Study. 61
31601037 2019
8
Functional effects of botulinum toxin type A in the hip adductors and subsequent stretching in patients with hereditary spastic paraplegia. 61
30968942 2019
9
A Novel Homozygous CAPN1 Pathogenic Variant in a Chinese Patient with Pure Hereditary Spastic Paraplegia. 61
30938113 2019
10
A novel CPT1C variant causes pure hereditary spastic paraplegia with benign clinical course. 61
30911584 2019
11
A Novel CAPN1 Mutation Causes a Pure Hereditary Spastic Paraplegia in an Italian Family. 61
31231303 2019
12
StartReact during gait initiation reveals differential control of muscle activation and inhibition in patients with corticospinal degeneration. 61
30155740 2018
13
A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia. 61
29528531 2018
14
Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation. 61
28818478 2017
15
De novo REEP2 missense mutation in pure hereditary spastic paraplegia. 61
28491902 2017
16
Novel Mutations in Endoplasmic Reticulum Lipid Raft-associated Protein 2 Gene Cause Pure Hereditary Spastic Paraplegia Type 18. 61
27824013 2016
17
SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia. 61
27334366 2016
18
A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings. 61
27260292 2016
19
Microarray analysis unmasked two siblings with pure hereditary spastic paraplegia shared a run of homozygosity region on chromosome 3q28-q29. 61
26671141 2015
20
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
21
Robot-assisted gait training in a patient with hereditary spastic paraplegia. 61
25255290 2015
22
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
23
The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview. 61
25413954 2015
24
Brain white matter involvement in hereditary spastic paraplegias: analysis with multiple diffusion tensor indices. 61
24788132 2014
25
Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia. 61
24824479 2014
26
Zebrafish models of human motor neuron diseases: advantages and limitations. 61
24705136 2014
27
Pure hereditary spastic paraplegia due to a de novo mutation in the NIPA1 gene. 61
25133278 2014
28
StartReact restores reaction time in HSP: evidence for subcortical release of a motor program. 61
24381288 2014
29
Axonal integrity of corticospinal projections to the upper limbs in patients with pure hereditary spastic paraplegia. 61
21195663 2011
30
Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia. 61
20550563 2011
31
Specific pattern of early white-matter changes in pure hereditary spastic paraplegia. 61
20669295 2010
32
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. 61
19439420 2009
33
Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia. 61
16684598 2006
34
All neuropathies great and small. 61
16276409 2005
35
The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B. 61
15537668 2005
36
Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia. 61
15452312 2004
37
A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14. 61
12499481 2002
38
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34. 61
12112072 2002
39
Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. 61
11898127 2002
40
Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. 61
11309678 2001
41
A large Japanese SPG4 family with a novel insertion mutation of the SPG4 gene: a clinical and genetic study. 61
11266693 2001
42
A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13. 61
10677333 2000
43
Autosomal dominant spastic paraplegia: refined SPG8 locus and additional genetic heterogeneity. 61
10563637 1999
44
Subclinical cognitive impairment in autosomal dominant "pure" hereditary spastic paraplegia. 61
10528866 1999
45
A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity. 61
10441583 1999
46
Locus-phenotype correlations in autosomal dominant pure hereditary spastic paraplegia. A clinical and molecular genetic study of 28 United Kingdom families. 61
10468513 1999
47
Pure hereditary spastic paraplegia. 61
9192272 1997
48
Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia. 61
8780101 1996
49
Sensory neuropathy in hereditary spastic paraplegia. 61
8006649 1994
50
Choreas, hereditary and other ataxias, tics, myoclonus, and other movement disorders. 61
8507906 1993

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 9.46 SPAST RTN2 ERLIN2 ATL1
2 axon cytoplasm GO:1904115 8.96 SPAST KIF5A
3 endoplasmic reticulum tubular network GO:0071782 8.62 SPAST ATL1

Sources for Pure Hereditary Spastic Paraplegia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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