Autosomal recessive spastic paraplegia type 14

General Information (adopted from Orphanet):

Synonyms, Signs: SPG14
Number of Symptoms 18
OrphanetNr: 100995
OMIM Id: 605229
ICD-10: G11.4
UMLs: C1854568
MeSH: C537486
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1 family [Orphanet]
Inheritance: Autosomal recessive
10877981 [IBIS]
Age of onset: Adult
10877981 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

Hereditary spastic paraplegias (HSPs), a group of neurodegenerative disorders that cause progressive spasticity of the lower limbs, are characterized by clinical and genetic heterogeneity. The autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28. The FGF12 gene is a member of the fibroblast growth factor (FGF) family, referred to as “fibroblast growth factor homologous factors” (FHFs). Each FHF is expressed in the developing and adult nervous system, suggesting, for this branch of the FGF family, a role in nervous system development and function. For these reasons, the FGF12 represents a positional candidate gene for SPG14 (PMID:10877981).

Symptom Information: Sort by abundance 

1
(HPO:0007340) Lower limb muscle weakness 10877981 IBIS 61 / 7739
2
(HPO:0003431) Decreased motor nerve conduction velocity 10877981 IBIS 51 / 7739
3
(HPO:0007002) Motor axonal neuropathy 19007737 IBIS 17 / 7739
4
(HPO:0003487) Babinski sign 10877981 IBIS 179 / 7739
5
(HPO:0001347) Hyperreflexia 10877981 IBIS 363 / 7739
6
(HPO:0006895) Lower limb hypertonia 10877981 IBIS 4 / 7739
7
(HPO:0002061) Lower limb spasticity 10877981 IBIS 56 / 7739
8
(HPO:0001258) Spastic paraplegia 10877981 IBIS 97 / 7739
9
(HPO:0002191) Progressive spasticity 10877981 IBIS 12 / 7739
10
(HPO:0002064) Spastic gait 10877981 IBIS 46 / 7739
11
(HPO:0010524) Agnosia 10877981 IBIS 6 / 7739
12
(HPO:0001249) Intellectual disability 19007737 IBIS 1089 / 7739
13
(HPO:0001256) Intellectual disability, mild 10877981 IBIS 141 / 7739
14
(HPO:0002354) Memory impairment 10877981 IBIS 63 / 7739
15
(HPO:0001761) Pes cavus 10877981 IBIS 225 / 7739
16
(HPO:0030223) Perseveration 10877981 IBIS 5 / 7739
17
(HPO:0003676) Progressive disorder 10877981 IBIS 148 / 7739
18
(OMIM) Neuropsychologic impairment 10877981 IBIS 1 / 7739

Associated genes:

SPG14;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In a consanguineous Italian family with SPG studied by Vazza et al. (2000), the average age of onset was 30 years, and the 3 affected individuals were examined clinically at ages 62, 64, and 52 years, respectively. Abnormal ...