RESUMO
Problems of Parkinson`s Disease within the Arab world are discussed and a number of solutions are presented that will help in the management of Idiopathic Parkinson`s Disease. The problems discussed are problems related to the diagnosis whereby no individual clinical feature has sufficient sensitivity and specificity to serve as the sole basis for distinguishing Parkinson`s disease from other diseases with Parkinsonian features. Problems related to the Unified Parkinson`s Disease Rating Scale are also discussed and convey a multitude of problems culturally distinct to the Arab world. Problems related to the medical treatment, selection of patients for surgery, the surgery itself and the surgeon, programming and rehabilitation are discussed in detail.
RESUMO
Two consanguineous Arab families with an autosomal recessive form of hereditary ataxia with slow eye movements and psychomotor retardation are reported. The ataxia presented in the first decade, was severely disabling and was associated with a spectrum of eye movements abnormalities as well as psychomotor retardation and sensory neuropathy. MRI studies of the brain showed a significant degree of cerebellar and brainstem atrophy. These 2 families support a previous report of a similarly affected consanguineous Arab family. The syndrome of autosomal recessive ataxia and slow or even absent saccades is proposed to be related but not identical to the autosomal dominant form known as the Wadia Swami syndrome, both of which seem to be related to the olivopontocerebellar degenerations.
Assuntos
Transtornos da Motilidade Ocular/genética , Transtornos Psicomotores/genética , Degenerações Espinocerebelares/genética , Adulto , Feminino , Genes Recessivos , Humanos , Jordânia , Imageamento por Ressonância Magnética , Masculino , Transtornos da Motilidade Ocular/patologia , Transtornos da Motilidade Ocular/fisiopatologia , Linhagem , Transtornos Psicomotores/patologia , Transtornos Psicomotores/fisiopatologia , Movimentos Sacádicos/fisiologia , Degenerações Espinocerebelares/patologia , Degenerações Espinocerebelares/fisiopatologia , Tomografia Computadorizada por Raios XRESUMO
An Arab family with an autosomal recessive form of spinocerebellar degeneration with slow eye movements is reported. Hitherto all the reported cases were either sporadic or of autosomal dominant inheritance. Associated are progressive intellectual impairment and extrapyramidal dysfunction as well as peripheral neuropathy and skeletal abnormalities. Muscle biopsy revealed non-specific mitochondrial abnormalities. The spectrum of eye movement abnormalities is discussed and the literature is reviewed. It is concluded that the hallmark of this syndrome (slow or even absent saccades) is one of a group of oculomotor abnormalities, all being characterized by delayed initiation and slow velocity. The syndrome seems to be related to the olivopontocerebellar degenerations, but differs in that there is in addition selective degeneration of certain tracts and nuclei in the mesencephalon and probably more rostral structures.