ALEXANDER DISEASE

Question 1

What is  ALEXANDER DISEASE?

Accepted Answer

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]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Alexander-Syndrom; Alexander-Krankheit

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 203450

Question 4

Which enzymes are involved?

Accepted Answer

Glial fibrillary acidic protein

Disease	ALEXANDER DISEASE
Synonym	ALXDRD
OMIM	203450 OMIM = Online Mendelian Inheritance of Men
Orphanet	58
Protein (UniProt)	Glial fibrillary acidic protein
ExPASy	--
Gene locus	17q21.31
ICD	E75.2
Summary	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