Early diagnosis in Spinocerebellar Ataxias: Prospects for clinical alterations and ethical dilemmas during preclinical trials.
Objective: To assess the acceptation level and ethical concerns for participating in early intervention approaches in Spinocerebellar Ataxia type 2 preclinical carriers and to evaluate…A case report: a primary progressive multiple sclerosis (PPMS) with adolescent-onset of progressive cerebellar ataxia
Objective: To report a 26 year-old female with progressive cerebellar ataxia for 12 years diagnosed to have primary progressive multiple sclerosis (PPMS). Background: Multiple sclerosis (MS) is a kind of CNS demyelinating disease. About 15% MS patients have a progressive course without a relapsing course. These patients are considered to have PPMS. It often presented a progressive neurological problem--such as lateralizing weakness, or numbness in the legs. Cerebellar ataxia as primary symptom is less frequent in PPMS and it's usually diagnosed in their 40-60 years at age. Here we present a case with adolescent-onset PPMS presenting progressive cerebellar ataxic syndrome. Methods: A 26 year-old female Taiwanese presented with 12 years of progressive ataxic gait. She denied relapses and remissions of symptoms. There were no mental decline, involuntary movements, muscle hypertrophy or abnormality in hearing or vision. She had no associated family history or consanguineous parents. Physical examination revealed dysarthria, dysmetria/intentional tremor and dysdiadochokinesia in four limbs and bilateral extensor plantar response. In addition, she had normal tendon reflexes, intact sensory function and negative Romberg test without parkinsonian features. Her gait was wide-based. Results: On investigation, CBC, lipid profile, LFT, chest X-ray, serum electrolytes, ECG, EEG and NCV showed normal results. VEP study were abnormal. The brain and cervical spine MRI showed no significant cerebellar atrophy or myelopathy. Instead, FLAIR-weighted imaging showed diffuse plaques in brainstem and cerebral white matters with a predilection for periventricular white matter with the major axes perpendicular to the ventricular surface (Dawson’s fingers). Besides, the CSF study revealed oligoclonal banding and elevation of IgG index. She had normal serum copper and ceruloplasmin levels and plasma very long-chain fatty acids (VLCFA) analysis. The genetic testing for spinocerebellar ataxia ( SCA1, 2, 3, 6, 7 and 17) is negative. In view of progressive ataxia with diffuse white matter lesions, a diagnosis of PPMS was made. Conclusions: PPMS can be a etiology in adolescent patient with progressive ataxic syndrome. Brain MRI is a better tool for detecting cerebral white matter lesions compared to CT in differential diagnosis of progressive ataxia. References:…Generalized choreodystonia in a patient with HIV and hepatitis C with the history of opioid drug abuse after treating with interferon- 2alpha (Peginton)
Objective: We reported a case of a patient G., 47 years old treated with Pegintron (1,5 mcg/kg/week) and ribavirin (15 mg/kg/day) within a year due…Lack of accurate self-appraisal is equally likely in Mild Cognitive Impairment from Parkinson’s disease and Other Neurodegenerative Disorders
Objective: To determine whether Parkinson's disease patients with mild cognitive impairment (PD-MCI) demonstrate more accurate self-appraisals of their cognitive deficits than non-PD individuals with amnestic…Psychogenic abdominal myoclonus in Pregnancy: Case Report
Objective: Movement disorders in pregnancy represent a diagnostic challenge due to the poor physiopathological understanding in the extrapyramidal system where the afferent and efferent circuits…Specific Metabolic Brain Networks Associated with Parkinsonian and Cerebellar Variants of Multiple System Atrophy
Objective: To identify specific metabolic brain networks for parkinsonian (MSA-P) and cerebellar (MSA-C) variants of MSA. Background: MSA is associated with a disease-related metabolic brain network (MSARP)…Holmes’ tremor and olivary hypertrophy: lessons from this neuroanatomical correlation
Objective: To describe the neuroanatomical correlations of unilateral versus bilateral hypertrophic olivary degeneration (HOD) in three patients diagnosed with Holmes’ (rubral) tremor, secondary to midbrain…Serum vitamin B12 levels in patients with Parkinson’s disease and its association with peripheral neuropathy and cognition
Objective: To compare serum Vitamin B12 levels among PD patients and normal controls and to assess the association of Vitamin B12 levels with various disease parameters, peripheral…Voice Cepstral Analysis in Adductor-Type Spasmodic Dysphonia
Objective: To investigate differences in voice parameters between patients affected by adductor-type spasmodic dysphonia (ASD) and Healthy subjects (HS). Background: Adductor-type spasmodic dysphonia (ASD) is…Self-awareness of cognitive functions in Parkinson’s disease patients with and without mild cognitive impairment.
Objective: To examine whether Parkinson’s disease (PD) patients with or without mild cognitive impairment (MCI) show impaired self-awareness (ISA) of their cognitive abilities. Background: PD…
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