Number of the records: 1
Pelizaeusova-Merzbacherova choroba
SYS d020371 LBL 00000nz--a2200000o--4500 005 20250606214015.6 008 991104|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 065 $a C10.228.140.163.100.362.775 065 $a C10.228.140.695.625.775 065 $a C10.314.400.775 065 $a C16.320.322.906 065 $a C16.320.565.189.362.775 065 $a C18.452.132.100.362.775 065 $a C18.452.648.189.362.775 066 $a 01 $c 03 150 $a Pelizaeusova-Merzbacherova choroba $x BL $x CF $x CI $x CL $x CO $x DG $x DH $x DI $x DT $x EC $x EH $x EM $x EN $x EP $x ET $x GE $x HI $x IM $x ME $x MI $x MO $x NU $x PA $x PC $x PP $x PS $x PX $x RH $x RT $x SU $x TH $x UR $x VE $x VI $2 slo 450 $w v $a Cockayne-Pelizaeus-Merzbacher Disease $2 eng 450 $w v $a Cockayneova-Pelizaeusova-Merzbacherova choroba $2 slo 550 $7 sllk_us_auth*d018991 $Y Myelin Proteolipid Protein $w b $a proteín myelínový proteolipidový 550 $7 sllk_us_auth*d018991 $Y Myelin Proteolipid Protein $w p $a proteín myelínový proteolipidový 665 $a 2000; use CEREBRAL SCLEROSIS, DIFFUSE 1979-1999 $2 eng 665 $a Diffuse Cerebral Sclerosis of Schilder (1966-1999) $2 eng 665 $a Multiple Sclerosis (1966-1999) $2 eng 680 9-
$i 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) $2 eng 750 -2
$a Pelizaeus-Merzbacher Disease $2 eng 980 $x M
Number of the records: 1