Autosomal dominant spastic paraplegia type 13

General Information (adopted from Orphanet):

Synonyms, Signs: SPG13
Number of Symptoms 14
OrphanetNr: 100994
OMIM Id: 605280
ICD-10: G11.4
UMLs: C1854467
MeSH: C537485
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 10 families [Orphanet]
Inheritance: Autosomal dominant
11898127 [IBIS]
Age of onset: Adult
10677329 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60 (= CPN60, GROEL, HLD4, HSP-60, HSP65, HuCHA60, SPG13) (PMID:11898127).

Symptom Information: Sort by abundance 

1
 (HPO:0007340) Lower limb muscle weakness 10677329 IBIS 61 / 7739
2
 (HPO:0002495) Impaired vibratory sensation Frequent [IBIS] 77% (n=9) 10677329 IBIS 26 / 7739
3
 (HPO:0007256) Abnormal pyramidal signs 10677329 IBIS 116 / 7739
4
 (HPO:0003487) Babinski sign Frequent [IBIS] 56% (n=9) 10677329 IBIS 179 / 7739
5
 (HPO:0001347) Hyperreflexia Frequent [IBIS] 67% (n=9) 10677329 IBIS 363 / 7739
6
 (HPO:0007350) Hyperreflexia in upper limbs Frequent [IBIS] 67% (n=9) 10677329 IBIS 5 / 7739
7
 (HPO:0002395) Lower limb hyperreflexia Frequent [IBIS] 67% (n=9) 10677329 IBIS 26 / 7739
8
 (HPO:0002061) Lower limb spasticity 18378094 IBIS 56 / 7739
9
 (HPO:0007199) Progressive spastic paraparesis 18378094 IBIS 3 / 7739
10
 (HPO:0001258) Spastic paraplegia 11898127 IBIS 97 / 7739
11
 (HPO:0002191) Progressive spasticity 11898127 IBIS 12 / 7739
12
 (HPO:0002064) Spastic gait 18378094 IBIS 46 / 7739
13
 (HPO:0000012) Urinary urgency Occasional [IBIS] 14% (n=7) 10677329 IBIS 35 / 7739
14
 (HPO:0003676) Progressive disorder 11898127 IBIS 148 / 7739

Associated genes:

HSPD1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM Hansen et al. (2002) found a mutation in the gene encoding mitochondrial chaperonin HSP60 (SSPD1) in affected members of the family with SPG13 reported by Fontaine et al. (2000).