Pelizaeus-Merzbacher Disease

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Description from OMIM

Pelizaeus-Merzbacher disease is an X-linked recessive hypomyelinative leukodystrophy (HLD1) in which myelin is not formed properly in the central nervous system. PMD is characterized clinically by nystagmus, spastic quadriplegia, ataxia, and developmental delay (Inoue, 2005). Genetic Heterogeneity of Hypomyelinating Leukodystrophy Other forms of hypomyelinating leukodystrophy include HLD2 (608804), caused by mutation in the GJC2/GJA12 gene (608803) on chromosome 1q41; HLD3 (260600), caused by mutation in the AIMP1 gene (603605) on chromosome 4q24; HLD4 (612233), caused by mutation in the HSPD1 gene (118190) on chromosome 2q33.1; and HLD5 (610532), caused by mutation in the FAM126A gene (610531) on chromosome 7p15; HLD6 (612438), caused by mutation in the TUBB4A gene (602662) on chromosome 19p13; HLD7 (607694), caused by mutation in the POLR3A gene (614258) on chromosome 10q22; HLD8 (614381), caused by mutation in the POLR3B gene (614366) on chromosome 12q23; HLD9 (616140), caused by mutation in the RARS gene (107820) on chromosome 5; HLD10 (616420), caused by mutation in the PYCR2 gene (616406) on chromosome 1q42; HLD11 (616494), caused by mutation in the POLR1C gene (610060) on chromosome 6p21; HLD12 (616683), caused by mutation in the VPS11 gene (608549) on chromosome 11q23; HLD13 (616881) caused by mutation in the HIKESHI gene (614908) on chromosome 11q14; HLD14 (617899), caused by mutation in the UFM1 gene (610553) on chromosome 13q13; HLD15 (617951), caused by mutation in the EPRS gene (138295) on chromosome 1q41; HLD16 (617964), caused by mutation in the TMEM106B gene (613413) on chromosome 7p21; and HLD17 (618006), caused by mutation in the AIMP2 gene (600859) on chromosome 7p22.

Prevalence of clinical parameters (%)

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Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Leukodystrophy nervous 100 % 24532200 2015-03-20
Nystagmus nervous 91 % 24532200 2015-03-20
Hypotonia nervous 79 % 24532200 2015-03-20
Spasticity nervous 66 % 24532200 2015-03-20
Hyperactive reflexes nervous 60 % 24532200 2015-03-20
Quadriplegia nervous 51 % 24532200 2015-03-20
Dysphagia nervous 23 % 24532200 2015-03-20
Hearing loss nervous 23 % 24532200 2015-03-20
Seizures nervous 19 % 24532200 2015-03-20
Developmental delay nervous 17 % 24532200 2015-03-20
Rigidity nervous 11 % 24532200 2015-03-20
Athetosis nervous 9 % 24532200 2015-03-20
Cerebral atrophy nervous 9 % 24532200 2015-03-20
Dystonia nervous 6 % 24532200 2015-03-20
Cerebellar atrophy nervous 2 % 24532200 2015-03-20

List of references:

Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies.
Yurika Numata, Leo Gotoh, Akiko Iwaki, Kenji Kurosawa, Jun-Ichi Takanashi, Kimiko Deguchi, Toshiyuki Yamamoto, Hitoshi Osaka, Ken Inoue,

To determine the epidemiological, clinical, and genetic characteristics of congenital hypomyelinating leukodystrophies, including Pelizaeus-Merzbacher disease (PMD), we conducted a nationwide epidemiological survey in Japan. A two-step survey targeting all medical institutions specializing in pediatric neurology and childhood disability (919 institutes) in Japan was performed. Detailed information was collected for 101 patients (86 males and 15 females) with congenital hypomyelinating leukodystrophies. The prevalence of congenital hypomyelinating disorders was 0.78 per 100,000 people (0-19 years old), and the incidence was 1.40 per 100,000 live births. Molecular testing was performed in 75 % of patients, and PLP1 gene abnormalities were observed in 62 %. The incidence of PMD with PLP1 mutations was estimated to be 1.45 per 100,000 male live births and that for congenital hypomyelinating disorders with unknown cause to be 0.41 per 100,000 live births. Patients with PLP1 mutations showed a higher proportion of nystagmus and hypotonia, both of which tend to disappear over time. Our results constitute the first nationwide survey of congenital hypomyelinating disorders, and provide the epidemiological, clinical, and genetic landscapes of these disorders.

Journal of neurology - Apr 2014