PELIZAEUS MERZBACHER DISEASE

Question 1

What is  PELIZAEUS MERZBACHER DISEASE?

Accepted Answer

rare
X-linked recessive
mutation in the PLP1 gene
2 types:
type I: Classical form, less severe with survival into adulthood
type II: Connatal form, most severe with death in first decade

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Pelizaeus-Merzbacher-Krankheit; Hirnsklerose, diffuse familiäre

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 312080

Question 4

Which enzymes are involved?

Accepted Answer

Myelin proteolipid protein

Disease	PELIZAEUS MERZBACHER DISEASE
Synonym	PROTEOLIPID PROTEIN, MYELIN; PELIZAEUS-MERZBACHER SYNDROME
OMIM	312080 OMIM = Online Mendelian Inheritance of Men
Orphanet	702
Protein (UniProt)	Myelin proteolipid protein
ExPASy	---
Gene locus	Xp22.2
ICD	E75.2
Summary	rare X-linked recessive mutation in the PLP1 gene 2 types: type I: Classical form, less severe with survival into adulthood type II: Connatal form, most severe with death in first decade
Laboratory findings	N-Acetylaspartylglutamate inc (urine)
Symptoms	ataxia chorea or athetosis dysarthria dystonia EMG abnormalities [-] eye movements, abnormal fasciculations hearing defect, deafness hypertonia, spasticity hypotonia mental retardation microcephaly (<2 SD for age) motor retardation MRI, brain, abnormalities [-] nystagmus onset, childhood onset, infancy onset, neonatal optic atrophy progressive neurologic defect psychomotor retardation seizures stridor