Case presentation: FHTA, male, 12 years old, child of a non-consanguineous couple, history fetal distress, born at term, Apgar ⅞. Reported nystagmus since birth, difficulty controlling the head and hypotonia, despite maintaining eye contact, recognizing voices smiling. First evaluation with Pediatric Neurologist was 5 months clinical features horizontal vertical nystagmus, circumference 43.5 cm...

The purpose of this article is to present contemporary information on the clinical and molecular diagnosis and the treatment of Pelizaeus-Merzbacher's disease (PMD) and related leukodystrophies. Various types of mutations of the X-linked proteolipid protein 1 gene (PLP1) that include copy number changes, point mutations, and insertions or deletions of a few bases lead to a clinical spectrum fro...

LIST OF ABBREVIATIONS: AIF, apoptosis inducing factor; CcO, cytochrome c oxidase; • • m, mitochondrial membrane potential; ER, endoplasmic reticulum; EM, electron microscopy; IMM, inner mitochondrial membrane; jp, jimpy mouse; mtCK, mitochondrial creatine kinase; Olg, oligodendrocyte; OMM, outer mitochondrial membrane; PARP, poly (ADP-ribose) polymerase; Plp1, X-linked myelin proteolipid protei...

A 23-year-old man with Pelizaeus-Merzbacher disease had a novel mutation, C344A (Thr115Lys), in exon 3 of the proteolipid protein gene (PLP) His mother, heterozygous for the mutation, developed progressive personality change and a gait disorder in her mid-20s. Her MRI at age 53 showed a diffuse severe leukodystrophy. This report extends the phenotypic range of disease due to PLP gene mutations ...