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Pelizaeusova-Merzbacherova choroba
Record number d020371 Date 06.06.2025 Type M - MESH Topical term Pelizaeusova-Merzbacherova choroba Other term English (Pseudonym) Cockayne-Pelizaeus-Merzbacher Disease
Slovak (Pseudonym) Cockayneova-Pelizaeusova-Merzbacherova choroba
See also (Later heading) proteín myelínový proteolipidový
(Skutočné meno) proteín myelínový proteolipidový
UDC C10.228.140.163.100.362.775C10.228.140.695.625.775C10.314.400.775C16.320.322.906C16.320.565.189.362.775C18.452.132.100.362.775C18.452.648.189.362.775 Note A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190) 
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