Since James Parkinson published his remarkable clinical observations in the "An Essay On The Shaking Palsy" in 1817, the number of diseases included in the spectrum of parkinsonian syndromes (a group of diseases that have some part of their clinical features resembling those seen in Parkinson's disease), are growing. Careful history taking, comprehensive neurological examination, and utilization of proper investigations will lead the physicians to make an accurate diagnosis of the specific disease entity present. In this recent review, we cover the issue of classification of parkinsonian syndromes, and comprehensively review the characteristic features of the commonly encountered diseases that present with this syndrome. The salient aspects of the epidemiology, key clinical features, proper investigations, and possible treatment options of these diseases have also been addressed.
A 38-year-old woman presented with gradually progressive difficulty walking and frequent falls since the age of 2 years. At the age of 20 years, her gait was markedly unstable, and her speech was slurred. Finally, she became wheelchairbound at the age of 28 years. Consanguinity was presented at the level of her paternal grandparents, but no family members were affected with neurological diseases. The ethnicity of the patient and her family were Thai. She and her family were originated from Cerebellar dysfunctions, including saccadic pursuit, hypermetric saccades, horizontal and vertical gaze-evoked nystagmus, scanning speech, finger dysmetria, and wide-based ataxic gait as well as spastic gait were presented (Video 1). Scleral telangiectasia, Kayser-Fleischer rings, oculomotor apraxia, and vertical supranuclear gaze palsy were not presented. Funduscopic examination showed hypermyelinated nerve fibers radiating from the optic disc (Figure 1A). Other neurological examination revealed normal cognitions and motor system
Background: Myoclonus and tremor are common movement disorder phenomenologies in steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT). Pure ataxia without encephalopathy has rarely been reported. Case report: We report 21-and 40-year-old females who presented with subacute pure ataxia without encephalopathy. After immunotherapies, both exhibited initial improvement of ataxia, and subsequently remained in plateau phase. Discussion: This treatable disorder should be added to the differential diagnoses of progressive cerebellar ataxia, and anti-thyroid peroxidase and antithyroglobulin should be considered as part of the workup. It is crucial not to misdiagnose SREAT presenting with pure cerebellar ataxia as degenerative or spinocerebellar ataxia.
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