Neurodegenerative syndrome due to cerebral folate transport deficiency

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 10
OrphanetNr: 217382
OMIM Id: 613068
ICD-10: G31.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of folate metabolism and transport
 -Rare genetic disease
Genetic neurodegenerative disease
 -Rare genetic disease
Rare neurodegenerative disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001250) Seizures 1245 / 7739
2
 (HPO:0001249) Intellectual disability 1089 / 7739
3
 (HPO:0002376) Developmental regression 74 / 7739
4
 (MedDRA:10061296) Motor dysfunction 4 / 7739
5
 (OMIM) Developmental regression, severe 1 / 7739
6
 (OMIM) Decreased CSF methyltetrahydrofolate (MTHF) 1 / 7739
7
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
8
 (HPO:0002180) Neurodegeneration 31 / 7739
9
 (OMIM) Brain MRS shows reduced choline and inositol peaks in the parieto-occipital white matter 1 / 7739
10
 (OMIM) Disturbed myelination affecting the periventricular and subcortical white matter 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) This is an autosomal recessive disorder resulting from brain-specific folate deficiency early in life. Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy, and leukodystrophy. Recognition and diagnosis of this disorder is critical because ...
Clinical Description OMIM Steinfeld et al. (2009) reported 2 German sibs with severe neurodegeneration beginning after age 2 years. The older boy, at age 3 years and 19 months, was severely handicapped, wheelchair-bound, and suffered from resistant epileptic seizures. After treatment ...
Molecular genetics OMIM In 2 German sibs with neurodegeneration due to cerebral folate transport deficiency, Steinfeld et al. (2009) identified compound heterozygosity for 2 mutations in the FOLR1 gene (Q118X; 136430.0001 and C175X; 136430.0002). An unrelated Italian girl with the disorder ...