friedreich’s ataxia (frda) is a rare autosomal recessive spinocerebellar ataxia which in the majority of cases is associated with a gaa-trinucleotide repeat expansion in the first intron of frataxin gene located on chromosome 9. the clinical features include progressive gait and limb ataxia, cerebellar dysarthria, neuropathy, optic atrophy, and loss of vibration and proprioception. ataxia with ...

BACKGROUND The aim of this research was to determine the prevalence and etiology of acquired ataxia in Al-Kharga district, New Valley, Egypt. METHODS A population-based study of acquired ataxia was conducted in a defined geographical region with a total population of 62,583. A door-to-door survey was used to identify cases of acquired cerebellar ataxia. Patients with acquired cerebellar ataxi...

Cerebellar pilocytic Astrocytoma is a benign tumor, acounts for 80% of all cerebellar Astrocytoma, and has a relatively good prognosis. This tumor usually presents with Ataxia and in the case of hydrocephaly with raised intracranial pressure signs such as headeach, and vomiting. Treatment of this tumor is complete resection and if hydrocephally is present V.P. shunt should be inserted. In the c...

The cerebellum is implicated in maintaining the saccadic subsystem efficient for vision by minimizing movement inaccuracy and by learning from endpoint errors. This ability is often disrupted in degenerative cerebellar diseases, as demonstrated by saccade kinetic abnormalities. The study of saccades in these patients may therefore provide insights into the neural substrate underlying saccadic m...

Adrenoleukodystrophy (ALD) is a rare and progressive neurogenetic disease that may manifest disparate symptoms. The present study aims at investigating the role of ataxic variant of ALD (AVALD) in patients with adult-onset cerebellar ataxia, as well as characterizing their clinical features that distinguish AVALD from other cerebellar ataxias. Mutations in the ATP binding cassette subfamily D m...

Background: Rare comprehensive epidemiological studies of ataxia have been undertaken worldwide. Objective: To estimate the prevalence of cerebellar ataxia and its subtypes in Al-Kharga District New Valley. Methods: This is a community based study carried out through three stages. Total populations 62,583 were screened door to door (every door) by three specialists of neurology. All suspected p...

Objectives: To determine the prevalence of cerebellar Ataxia in patients with hypothyroidism. Materials and Methods: The design this study was cross sectional conducted Shaheed Mohtarma Benazir Bhutto Medical University, Larkana. This duration 6 months from July 2022–Dec 2022. Total 13 hypothyroidism were enrolled. Routine blood investigation Thyroid Function Tests done for all patients. MRI or...

Spinocerebellar ataxia type 6 (SCA 6) is an autosomal dominant cerebellar ataxia caused by CAG repeat expansion in the SCA6 gene, a alpha 1A voltage-dependent calcium channel subunit gene on chromosome 19p13. SCA-6 is characterized predominantly by slowly progressive pure cerebellar ataxia with late onset. We report three index patients, with pure, late onset, cerebellar ataxia, belonging to th...

Methods This retrospective and descriptive study evaluated the clinical characteristics and outcomes of patients with CA-GAD-ab. Result Three patients with cerebellar ataxia, high GAD-ab titers and autoimmune endocrine disease were identified. Patients 1 and 2 had classic stiff person syndrome and insidious-onset cerebellar ataxia, while Patient 3 had pure cerebellar ataxia with subacute onse...

The spinocerebellar ataxia recessive type 10 is a genetic form associated with ANO10 gene mutations. Affected individuals present ataxia, hyperreflexia, ocular movement disorders and cerebellar atrophy. homozygous variant in the NP_060545.3:p.Asn114* 2-nucleotide deletion that would cause introduction of premature stop codon at same position, has not been previously described scientific literat...