Autosomal dominant spastic paraplegia type 31

General Information (adopted from Orphanet):

Synonyms, Signs: SPG31
Number of Symptoms 21
OrphanetNr: 101011
OMIM Id: 610250
ICD-10: G11.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
18644145 [IBIS]
Age of onset: Childhood
Adolescent
Adult
19034539; 18644145 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

REEP1 is an ER protein within the DP1/Yop1p superfamily. Members of the DP1/Yop1p protein family form higher-order oligomeric structures. REEP1 forms higher-order oligomers as well (PMID:20200447). Mutations in the receptor expression enhancing protein 1 (REEP1) gene have recently been reported to be associated with an autosomal dominant HSP phenotype (SPG31) (PMID:19034539).

Symptom Information: Sort by abundance 

1
(HPO:0003287) Abnormality of mitochondrial metabolism 19034539 IBIS 12 / 7739
2
(HPO:0003202) Skeletal muscle atrophy 19034539 IBIS 281 / 7739
3
(HPO:0001283) Bulbar palsy 19034539 IBIS 31 / 7739
4
(HPO:0007340) Lower limb muscle weakness 20200447 IBIS 61 / 7739
5
(HPO:0007002) Motor axonal neuropathy 19034539 IBIS 17 / 7739
6
(HPO:0002936) Distal sensory impairment 19034539 IBIS 96 / 7739
7
(HPO:0002166) Impaired vibration sensation in the lower limbs 19034539 IBIS 26 / 7739
8
(HPO:0009830) Peripheral neuropathy 19034539 IBIS 206 / 7739
9
(HPO:0003487) Babinski sign 19034539 IBIS 179 / 7739
10
(HPO:0001347) Hyperreflexia 19034539 IBIS 363 / 7739
11
(HPO:0002061) Lower limb spasticity 19034539 IBIS 56 / 7739
12
(HPO:0002313) Spastic paraparesis 19034539 IBIS 33 / 7739
13
(HPO:0001258) Spastic paraplegia 16826527 IBIS 97 / 7739
14
(HPO:0002064) Spastic gait 19034539 IBIS 46 / 7739
15
(HPO:0001285) Spastic tetraparesis 19034539 IBIS 29 / 7739
16
(HPO:0001260) Dysarthria 19034539 IBIS 329 / 7739
17
(HPO:0001288) Gait disturbance 19034539 IBIS 318 / 7739
18
(HPO:0002015) Dysphagia Rare [HPO:probinson] 19034539 IBIS 301 / 7739
19
(HPO:0001761) Pes cavus Rare [HPO:probinson] 19034539 IBIS 225 / 7739
20
(HPO:0001367) Abnormal joint morphology 19034539 IBIS 53 / 7739
21
(HPO:0000012) Urinary urgency Rare [HPO:probinson] 18644145 IBIS 35 / 7739

Associated genes:

REEP1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Zuchner et al. (2006) described 2 multigenerational Caucasian families with an autosomal dominant form of uncomplicated spastic paraplegia. All patients studied had typical signs of spastic paraplegia mainly characterized by proximal weakness of the lower extremities with brisk ...
Molecular genetics OMIM On the basis of emerging pathways for spastic paraplegia and conserved protein domains contained in proteins that cause neurodegenerative diseases, Zuchner et al. (2006) chose 9 candidate genes in the critical linkage region. Sequencing all exons and flanking ...