TANDEM REPEATS BEYOND THE CLINICAL DIAGNOSIS IN ADCAs
Objective: To present observations on abnormal expansion in both allele in ADCAs. Background: Use of expansion in tandem repeats is restricted to only disease diagnosis…Severity Assessment, Functional Capacity and Balance in Patients with Spinocerebellar Ataxias (SCAs): comparison between types 3 and 10.
Objective: To compare the differences in the evolution in terms of severity, functional independence and balance in patients with SCAs type 3 and 10 Background:…Autosomal Dominant Spinocerebellar Ataxia Secondary to CACNA1G in a Patient of German Ancestry
Objective: We describe the case of a male patient of German ancestry with SCA 42. Background: Hereditary spinocerebellar ataxia (SCA) describes a heterogeneous group of…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:…Relationship between sensory augmentation and exercise routine in the improvement in balance and gait in a patient with lithium-induced ataxia
Objective: This case report describes the use of sensory augmentation and an exercise routine to improve balance and gait in a patient with lithium-induced ataxia.…Astasia, reach and grasp deficits following bilateral medio-dorsal pulvinar lesions
Objective: Analysis of the consequences of bilateral dorso-medial pulvinar lesions Background: Expansion of the dorsal pulvinar in humans and its anatomical connectivity suggests its involvement…Indian ARSACS (Autosomal Recessive Spastic Ataxia of Charlevoix- Saugenay): Clinical report of the first genetically proven case from India, due to a novel SACS duplication
Objective: Objective: To report clinical, imaging and genetic findings in a case of ARSACS from India Background: ARSACS was described initially from Quebec, Canada, and later…Steroid-responsive encephalopathy with associated thyroiditis (SREAT) presenting with pure cerebellar ataxia
Objective: To describe two patients with SREAT presenting with progressive cerebellar ataxia. Background: SREAT or Hashimoto’s encephalopathy is an autoimmune encephalopathy typically presenting with rapidly…Delayed progressive spastic cerebellar ataxia and cerebellar atrophy after Heat Stroke
Objective: To describe a very rare case of delayed progressive spastic cerebellar ataxia after an episode of survival after heat stroke Background: Heat stroke is…Ataxia, opsoclonus and peripheral neuropathy induced by chronic toluene intoxication.
Objective: To report a case of a young patient with opsoclonus, ataxia and peripheral neuropathy due to toluene intoxication. Background: Amid the causes of…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.