Autosomal recessive spastic paraplegia type 56

General Information (adopted from Orphanet):

Synonyms, Signs: SPG56
Number of Symptoms 14
OrphanetNr: 320411
OMIM Id: 615030
ICD-10: G11.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Pure or complex autosomal recessive spastic paraplegia
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0001258) Spastic paraplegia 97 / 7739
2
(HPO:0003487) Babinski sign 179 / 7739
3
(HPO:0100543) Cognitive impairment rare [HPO:skoehler] 230 / 7739
4
(HPO:0002395) Lower limb hyperreflexia 26 / 7739
5
(HPO:0001270) Motor delay 322 / 7739
6
(HPO:0002317) Unsteady gait 45 / 7739
7
(HPO:0002135) Basal ganglia calcification rare [HPO:skoehler] 37 / 7739
8
(MedDRA:10068872) Toe walking 2 / 7739
9
(HPO:0002079) Hypoplasia of the corpus callosum rare [HPO:skoehler] 161 / 7739
10
(HPO:0002500) Abnormality of the cerebral white matter 73 / 7739
11
(OMIM) Upper limb hyperreflexia (in some patients) 2 / 7739
12
(HPO:0040083) Toe walking 15 / 7739
13
(OMIM) Dystonic posturing 4 / 7739
14
(OMIM) Axonal neuropathy, subclinical 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) SPG56 is an autosomal recessive neurodegenerative disorder characterized by early-onset progressive lower-limb spasticity resulting in walking difficulties. Upper limbs are often also affected, and some patients may have a subclinical axonal neuropathy (summary by Tesson et al., 2012). ...
Clinical Description OMIM Tesson et al. (2012) reported 5 unrelated families with autosomal recessive spastic paraplegia. Two were consanguineous and of Saudi Arabian origin. The other families were of Italian, Egyptian, or mixed Spanish/Vietnamese descent. Affected individuals developed spastic paraplegia, often ...
Molecular genetics OMIM In affected members of 2 consanguineous Saudi Arabian families with autosomal recessive spastic paraplegia, Tesson et al. (2012) identified a homozygous mutation in the CYP2U1 gene (D316V; 610670.0001). The mutation was found by linkage analysis followed by exome ...