Neuronal intranuclear inclusion disease : Report on a case originally diagnosed as dopa-responsive dystonia with lewy bodies
Identifieur interne : 005262 ( Main/Merge ); précédent : 005261; suivant : 005263Neuronal intranuclear inclusion disease : Report on a case originally diagnosed as dopa-responsive dystonia with lewy bodies
Auteurs : Dominic C. Paviour [Royaume-Uni] ; Tarn Revesz [Royaume-Uni] ; Janice L. Helton [Royaume-Uni] ; Andrew Evans [Royaume-Uni] ; Jan-Edvin Olsson [Suède] ; Ardrew J. Lees [Royaume-Uni]Source :
- Movement disorders [ 0885-3185 ] ; 2005.
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- Pascal (Inist)
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Abstract
Neurons I intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder with a heterogeneous clinical picture characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells. We describe a case, reported 12 years ago as dopa-responsive dystonia (DRD) with Lewy body pathology. Pathological re-examination has led to a revised diagnosis of neuronal intranuclear inclusion disease. This rare condition, which may be diagnosed in life with a full thickness rectal biopsy, needs to be considered in the differential diagnosis of any case presenting as progressive juvenile parkinsonism (JP) or dystonia.
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<front><div type="abstract" xml:lang="en">Neurons I intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder with a heterogeneous clinical picture characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells. We describe a case, reported 12 years ago as dopa-responsive dystonia (DRD) with Lewy body pathology. Pathological re-examination has led to a revised diagnosis of neuronal intranuclear inclusion disease. This rare condition, which may be diagnosed in life with a full thickness rectal biopsy, needs to be considered in the differential diagnosis of any case presenting as progressive juvenile parkinsonism (JP) or dystonia.</div>
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