PELIZAEUS MERZBACHER DISEASE
\pˈɛlɪzˌiːəs mˈɜːzbɑːkə dɪzˈiːz], \pˈɛlɪzˌiːəs mˈɜːzbɑːkə dɪzˈiːz], \p_ˈɛ_l_ɪ_z_ˌiː__ə_s m_ˈɜː_z_b_ɑː_k_ə d_ɪ_z_ˈiː_z]\
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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. 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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Proto Oncogene Proteins c erbB 2
- cell surface protein-tyrosine kinase that is found to be overexpressed in significant number adenocarcinomas. It has extensive homology can heterodimerize EGF EPIDERMAL GROWTH FACTOR), 3 receptor (RECEPTOR, 3) and the 4 receptor. Activation of erbB-2 receptor occurs during heterodimer formation with a ligand-bound erbB family members. EC 2.7.11.-.
Nearby Words
- peliosis
- peliosis hepati
- peliosis hepatis
- pelisse
- peliv inlet
- Pelizaeus Merzbacher Disease
- pell
- pell age
- pell-mell
- pella
- pellack