SPG79
MCID: SPS205
MIFTS: 27

Spastic Paraplegia 79, Autosomal Recessive (SPG79)

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Spastic Paraplegia 79, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 79, Autosomal Recessive:

Name: Spastic Paraplegia 79, Autosomal Recessive 56 73 29 6
Neurodegeneration with Optic Atrophy, Childhood-Onset 56 73 71
Spg79 56 73
Ndgoa 56 73
Early-Onset Progressive Neurodegeneration-Blindness-Ataxia-Spasticity Syndrome 58
Neurodegeneration with Optic Atrophy, Childhood-Onset; Ndgoa 56
Neurodegeneration, with Optic Atrophy, Childhood-Onset 39

Characteristics:

Orphanet epidemiological data:

58
early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in first decade
two unrelated families have been reported (last curated february 2017)


HPO:

31
spastic paraplegia 79, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


Summaries for Spastic Paraplegia 79, Autosomal Recessive

UniProtKB/Swiss-Prot : 73 Spastic paraplegia 79, autosomal recessive: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG79 is characterized by childhood onset blindness, cerebellar ataxia, nystagmus, dorsal column dysfunction, and spasticity with upper motor neuron dysfunction.

MalaCards based summary : Spastic Paraplegia 79, Autosomal Recessive, is also known as neurodegeneration with optic atrophy, childhood-onset, and has symptoms including myokymia, head titubation and muscular fasciculation. An important gene associated with Spastic Paraplegia 79, Autosomal Recessive is UCHL1 (Ubiquitin C-Terminal Hydrolase L1). Affiliated tissues include eye, and related phenotypes are myotonia and intention tremor

OMIM : 56 SPG79 is an autosomal recessive progressive neurologic disorder characterized by onset of spastic paraplegia and optic atrophy in the first decade of life. Additional features are variable, but may include peripheral neuropathy, cerebellar ataxia, and cognitive impairment (summary by Rydning et al., 2017). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800). (615491)

Related Diseases for Spastic Paraplegia 79, Autosomal Recessive

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, Autosomal Recessive 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 Spastic Paraplegia 80, Autosomal Dominant
Hereditary Spastic Paraplegia 23 Hereditary Spastic Paraplegia 51
Hereditary Spastic Paraplegia 72 Hereditary Spastic Paraplegia
Spastic Paraplegia 4 Spastic Paraplegia 8
Spastic Paraplegia 11 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 32
Spastic Paraplegia 39 Spastic Paraplegia 47
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 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

Symptoms & Phenotypes for Spastic Paraplegia 79, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 79, Autosomal Recessive:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 myotonia 31 occasional (7.5%) HP:0002486
2 intention tremor 31 occasional (7.5%) HP:0002080
3 nystagmus 31 HP:0000639
4 pes planus 31 HP:0001763
5 optic atrophy 31 HP:0000648
6 flexion contracture 31 HP:0001371
7 progressive visual loss 31 HP:0000529
8 myopia 31 HP:0000545
9 babinski sign 31 HP:0003487
10 dysmetria 31 HP:0001310
11 pes cavus 31 HP:0001761
12 neurodegeneration 31 HP:0002180
13 fasciculations 31 HP:0002380
14 spastic paraplegia 31 HP:0001258
15 cerebellar atrophy 31 HP:0001272
16 sensorimotor neuropathy 31 HP:0007141
17 ankle clonus 31 HP:0011448
18 cerebral atrophy 31 HP:0002059
19 tetraparesis 31 HP:0002273
20 myokymia 31 HP:0002411
21 head titubation 31 HP:0002599

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
nystagmus
optic atrophy
myopia
visual loss, progressive
normal electroretinogram
more
Skeletal Feet:
pes planus
pes cavus

Head And Neck Head:
head titubation

Neurologic Peripheral Nervous System:
axonal sensorimotor neuropathy
impaired distal sensation to vibration and position

Neurologic Central Nervous System:
hyperreflexia
dysmetria
spastic paraplegia
ankle clonus
tetraparesis
more
Muscle Soft Tissue:
fasciculations
myokymia

Skeletal:
joint contractures

Clinical features from OMIM:

615491

UMLS symptoms related to Spastic Paraplegia 79, Autosomal Recessive:


myokymia, head titubation, muscular fasciculation, cerebellar ataxia, quadriparesis

Drugs & Therapeutics for Spastic Paraplegia 79, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 79, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 79, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 79, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 79, Autosomal Recessive 29 UCHL1

Anatomical Context for Spastic Paraplegia 79, Autosomal Recessive

MalaCards organs/tissues related to Spastic Paraplegia 79, Autosomal Recessive:

40
Eye

Publications for Spastic Paraplegia 79, Autosomal Recessive

Articles related to Spastic Paraplegia 79, Autosomal Recessive:

# Title Authors PMID Year
1
Novel UCHL1 mutations reveal new insights into ubiquitin processing. 6 56
28007905 2017
2
Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration. 6 56
23359680 2013
3
Gracile axonal dystrophy (GAD), a new neurological mutant in the mouse. 56 6
3340629 1988
4
Spastic paraparesis associated with optic atrophy in monozygotic twins. 6 56
4514348 1972
5
Hereditary Spastic Paraplegia Overview 6
20301682 2000
6
Intragenic deletion in the gene encoding ubiquitin carboxy-terminal hydrolase in gad mice. 56
10471497 1999
7
Mapping of the gracile axonal dystrophy (gad) gene to a region between D5Mit197 and D5Mit113 on proximal mouse chromosome 5. 56
7558041 1995
8
Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79. 61
29735986 2018

Variations for Spastic Paraplegia 79, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 79, Autosomal Recessive:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 UCHL1 NM_004181.5(UCHL1):c.20A>C (p.Glu7Ala)SNV Pathogenic 88635 rs397515634 4:41259013-41259013 4:41256996-41256996
2 UCHL1 NM_004181.5(UCHL1):c.533G>A (p.Arg178Gln)SNV Pathogenic 375649 rs768996179 4:41266126-41266126 4:41264109-41264109
3 UCHL1 NM_004181.5(UCHL1):c.647C>A (p.Ala216Asp)SNV Pathogenic 375650 rs1057519600 4:41270065-41270065 4:41268048-41268048
4 UCHL1 NM_004181.5(UCHL1):c.459+2T>CSNV Likely pathogenic 522605 rs1554004931 4:41263942-41263942 4:41261925-41261925

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 79, Autosomal Recessive:

73
# Symbol AA change Variation ID SNP ID
1 UCHL1 p.Glu7Ala VAR_070875 rs397515634
2 UCHL1 p.Arg178Gln VAR_078119 rs768996179
3 UCHL1 p.Ala216Asp VAR_078120 rs105751960

Expression for Spastic Paraplegia 79, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 79, Autosomal Recessive.

Pathways for Spastic Paraplegia 79, Autosomal Recessive

GO Terms for Spastic Paraplegia 79, Autosomal Recessive

Sources for Spastic Paraplegia 79, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
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11 DGIdb
17 EFO
18 ExPASy
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32 ICD10
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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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