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ALEXANDER DISEASE

ALEXANDER DISEASE
ALXDRD
203450
OMIM = Online Mendelian Inheritance of Men
58
Glial fibrillary acidic protein
--
17q21.31
E75.2
rare
autosomal dominant
mutation in the gene encoding glial fibrillary acidic protein
3 subtypes of Alexander disease (infantile, juvenile, and adult onset) primary genetic disorder of astrocytes [Brenner M et al.] clinical findings are similar to those of Canavan disease. Adult onset AD is more common than previously thought and might even be the most common form of AD [Pareyson et al. 2008]
Laboratory findings    alpha-B-crystallin inc (brain)
    Protein, total inc (cerebrospinal fluid)
Symptoms    ataxia
    dysarthria
    dysphagia
    early death
    feeding difficulties, poor feeding
    hydrocephalus
    hypertonia, spasticity
    hypothermia
    lethargy, drowsiness, apathy
    leukoencephalopathy
    macrocephaly (large calvaria, >2 SD for age)
    mental retardation
    motor retardation
    MRI, brain, white matter abnormalities [-]
    onset, adolescent
    onset, adulthood
    onset, childhood
    onset, infancy
    paraparesis/paraplegia
    paresis
    Rosenthal fibers
    seizures
    spastic diplegia/quadriplegia/tetraplegia
    ultrasound, cranial, abnormalities
    vomiting