Leukodystrophies with astrocytic dysfunction.

[canavan disease]

Astrocytic dysfunctions have been recently identified in four leukosdystrophies without peripheral nervous system myelin involvement . Alexander disease , the first primary genetic astrocytic disorder identified , is due to dominant GFAP mutations . The presence of Rosenthal fibers throughout the CNS is the pathological hallmark of this disease . Neurological degradation , megalencephaly , and typical MRI pattern are characteristic of infantile sporadic patients . Nevertheless , clinical and MRI expression is large , including late onset forms which can be familial . Spongiform or cystic white matter CNS degeneration is present in the other three recessive disorders . The visualization of a white matter cystic breakdown on MRI has led to the identification of CACH /VWM and MLC diseases . CACH /VWM is due to mutations in one of the five subunits of EIF 2 B which compromise the astrocytic lineage . The clinical spectrum is large , from antenatal to adult forms , and several extraneurological organs can be affected . Mutations in MLC 1 , which is mainly expressed in astrocyte endfeet , produce megalencephaly , whereas the mild clinical course contrasts with severe MRI features . An increased concentration of NAA in the urine is sufficient to diagnose Canavan disease , which is due to mutations of the ASPA gene . These disorders highlight the role of astrocytes in myelination or myelin maintenance .

Diseases
Validation

Diseases presenting "whereas the mild clinical course contrasts with severe mri features" symptom

alexander disease

canavan disease

You can validate or delete this automatically detected symptom