Ataxia-telangiectasia-like disorder 1 (ATLD1) is a rare neurodegenerative associated with early onset ataxia and oculomotor apraxia. The genetic determination of ATLD1 mutation in the MRE11 gene (meiotic recombination 11 gene), which causes DNA-double strand break repair deficits. Clinical features patients resemble those telangiectasia (AT), slower progression milder presentation. Main symptom...

BACKGROUND The autosomal recessive ataxias are a heterogeneous group of disorders that are characterized by complex neurological features in addition to progressive ataxia. Hyperkinetic movement disorders occur in a significant proportion of patients, and may sometimes be the presenting motor symptom. Presentations with involuntary movements rather than ataxia are diagnostically challenging, an...

Ataxia is a common neurological syndrome resulting from cerebellar, vestibular or sensory disorders. The recognition and characterisation of sensory ataxia remains a challenge. Cerebellar ataxia is the more common and easier to identify; sensory ataxia is often mistaken for cerebellar ataxia, leading to diagnostic errors and delays. A coherent aetiological work-up is only possible if clinicians...

Objective(s) The mitochondrial defects in Friedreich's ataxia have been reported in many researches. Mitochondrial DNA is one of the candidates for defects in mitochondrion, and complex I is the first and one of the largest catalytic complexes of oxidative phosphorylation (OXPHOS) system. Materials and Methods We searched the mitochondrial ND4L gene for mutations by TTGE and sequencing on 30...

Sensory neuropathy with prominent ataxia reflecting kinesthetic sensory impairment is a well recognised form of neuropathy associated with Sjögren’s syndrome. Pathologically, T cell invasion of dorsal root ganglia, loss of large sensory neurons, and secondary large fibre degeneration is seen in this neuropathy. However, a form of neuropathy associated with Sjögren’s syndrome, presenting with pa...

Ataxia can be classified according to the onset into episodic, acute, intermittent and chronic ataxia. Acute ataxia in children is caused by CNS tumors, trauma, CNS infection, toxins, metabolic causes or stroke. Recurrent ataxia can be due to metabolic causes, seizures, basilar artery migraine or toxins. Chronic ataxia is usually the result of hereditary ataxia, CNS tumors, congenital anomalies...

Ataxia can be classified according to the onset into episodic, acute, intermittent and chronic ataxia. Acute ataxia in children is caused by CNS tumors, trauma, CNS infection, toxins, metabolic causes or stroke. Recurrent ataxia can be due to metabolic causes, seizures, basilar artery migraine or toxins. Chronic ataxia is usually the result of hereditary ataxia, CNS tumors, congenital anomalies...

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...

OBJECTIVE Spinocerebellar ataxias are neurodegenerative disorders involving the cerebellum and its connections. There are more than 30 distinct subtypes, 16 of which are associated with an identified gene. The aim of the current study was to evaluate a large group of patients from 104 Brazilian families with spinocerebellar ataxias. METHODS We studied 150 patients from 104 families with spino...