Autosomal dominant spastic paraplegia type 12

General Information (adopted from Orphanet):

Synonyms, Signs: SPG12
Number of Symptoms 15
OrphanetNr: 100993
OMIM Id: 604805
ICD-10: G11.4
UMLs: C1858106
MeSH: C537484
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 10 families [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant pure spastic paraplegia
 -Rare genetic disease
 -Rare neurologic disease

Comment:

Mutations in the ER-shaping protein reticulon 2 (SPG12 / RTN2) cause the axon-degenerative disorder hereditary spastic paraplegia type 12 (HSP12) (PMID:22232211).

Symptom Information: Sort by abundance 

1
(HPO:0003202) Skeletal muscle atrophy 22232211 IBIS 281 / 7739
2
(HPO:0007340) Lower limb muscle weakness 22232211 IBIS 61 / 7739
3
(HPO:0002166) Impaired vibration sensation in the lower limbs 22232211 IBIS 26 / 7739
4
(HPO:0003487) Babinski sign 22232211 IBIS 179 / 7739
5
(HPO:0001347) Hyperreflexia 22232211 IBIS 363 / 7739
6
(HPO:0001348) Brisk reflexes 22232211 IBIS 15 / 7739
7
(HPO:0002395) Lower limb hyperreflexia 22232211 IBIS 26 / 7739
8
(HPO:0002061) Lower limb spasticity 22232211 IBIS 56 / 7739
9
(HPO:0001258) Spastic paraplegia 22232211 IBIS 97 / 7739
10
(HPO:0002064) Spastic gait 22232211 IBIS 46 / 7739
11
(HPO:0001760) Abnormality of the foot 22232211 IBIS 96 / 7739
12
(HPO:0002839) Urinary bladder sphincter dysfunction 22232211 IBIS 34 / 7739
13
(HPO:0000020) Urinary incontinence 22232211 IBIS 75 / 7739
14
(HPO:0000012) Urinary urgency 22232211 IBIS 35 / 7739
15
(HPO:0003676) Progressive disorder 22232211 IBIS 148 / 7739

Associated genes:

RTN2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Spastic paraplegia-12 is an autosomal dominant neurodegenerative disorder characterized by lower limb spasticity and hyperreflexia, resulting in walking difficulties. Some patients may have urinary symptoms and distal sensory impairment. The age at onset is variable and can range ...
Clinical Description OMIM Reid et al. (2000) reported a Welsh family with autosomal dominant spastic paraplegia. Montenegro et al. (2012) reported follow-up of this family, which included 9 affected individuals. The mean age at onset was 6.8 years (range, 5-22 years), ...
Molecular genetics OMIM In affected members of the families with SPG12 reported by Reid et al. (2000) and Orlacchio et al. (2002), Montenegro et al. (2012) identified a heterozygous truncating mutation in the RTN2 gene (603183.0001). Heterozygous mutations in the gene ...