Svensk definition
En grupp av ärftliga och sporadiska sjukdomar med progressiv ataxi kombinerad med atrofi av lillhjärna, hjärnbrygga och inferior olivkärna. Andra kliniska kännetecken kan inkludera muskelstelhet, patologisk nystagmus, näthinneförtvining, muskelspasticitet, demens, urininkontinens och ögonförlamning. Den familjära formen har tidigare sjukdomsdebut (andra livsdekaden) och ryggmärgsatrofi kan uppträda. Den sporadiska formen tenderar att visa sig under femte eller sjätte livsdekaden och betraktas som en klinisk subtyp av multisystematrofi.
Engelsk definition
A group of inherited and sporadic disorders which share progressive ataxia in combination with atrophy of the CEREBELLUM; PONS; and inferior olivary nuclei. Additional clinical features may include MUSCLE RIGIDITY; NYSTAGMUS, PATHOLOGIC; RETINAL DEGENERATION; MUSCLE SPASTICITY; DEMENTIA; URINARY INCONTINENCE; and OPHTHALMOPLEGIA. The familial form has an earlier onset (second decade) and may feature spinal cord atrophy. The sporadic form tends to present in the fifth or sixth decade, and is considered a clinical subtype of MULTIPLE SYSTEM ATROPHY. (From Adams et al., Principles of Neurology, 6th ed, p1085)
Svenska synonymer
Dejerine-Thomas syndrom — Presenil ataxi — Olivopontocerebellär degeneration
Engelska synonymer
Atrophy, Olivopontocerebellar — Olivopontocerebellar Atrophy — Dejerine-Thomas Syndrome — Dejerine Thomas Syndrome — Syndrome, Dejerine-Thomas — Olivo-Ponto-Cerebellar Degeneration — Degeneration, Olivo-Ponto-Cerebellar — Olivo Ponto Cerebellar Degeneration — Olivo-Ponto-Cerebellar Degenerations — Presenile Ataxia — Ataxia, Presenile — Presenile Ataxias — Pontoolivocerebellar Atrophy — Atrophy, Pontoolivocerebellar — Pontoolivocerebellar Atrophies — Olivopontocerebellar Degeneration — Degeneration, Olivopontocerebellar — Olivopontocerebellar Degenerations — Olivo-Ponto-Cerebellar Atrophy — Atrophy, Olivo-Ponto-Cerebellar — Olivo Ponto Cerebellar Atrophy — Nonfamilial Olivopontocerebellar Atrophy — Atrophy, Nonfamilial Olivopontocerebellar — Nonfamilial Olivopontocerebellar Atrophies — Olivopontocerebellar Atrophies, Nonfamilial — Olivopontocerebellar Atrophy, Nonfamilial — Familial Olivopontocerebellar Atrophy — Atrophy, Familial Olivopontocerebellar — Familial Olivopontocerebellar Atrophies — Olivopontocerebellar Atrophies, Familial — Olivopontocerebellar Atrophy, Familial — Inherited Olivopontocerebellar Atrophy — Atrophy, Inherited Olivopontocerebellar — Inherited Olivopontocerebellar Atrophies — Olivopontocerebellar Atrophy, Inherited — Olivopontocerebellar Atrophy, Idiopathic — Atrophy, Idiopathic Olivopontocerebellar — Idiopathic Olivopontocerebellar Atrophies — Idiopathic Olivopontocerebellar Atrophy — Olivopontocerebellar Hypoplasia — Hypoplasia, Olivopontocerebellar — Olivopontocerebellar Hypoplasias