16 research outputs found
A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia
Both nuclear and mitochondrial DNA defects can cause isolated cytochrome c oxidase (COX; complex IV) deficiency, leading to the development of the mitochondrial disease. We report a 52-year-old female patient who presented with a late-onset, progressive cerebellar ataxia, tremor and axonal neuropathy. No family history of neurological disorder was reported. Although her muscle biopsy demonstrated a significant COX deficiency, there was no clinical and electromyographical evidence of myopathy. Electrophysiological studies identified low frequency sinusoidal postural tremor at 3 Hz, corroborating the clinical finding of cerebellar dysfunction. Complete sequencing of the mitochondrial DNA genome in muscle identified a novel MT-CO2 variant, m.8163A>G predicting p.(Tyr193Cys). We present several lines of evidence, in proving the pathogenicity of this heteroplasmic mitochondrial DNA variant, as the cause of her clinical presentation. Our findings serve as an important reminder that full mitochondrial DNA analysis should be included in the diagnostic pipeline for investigating individuals with spinocerebellar ataxi
Concentric needle single fiber electromyography: normative jitter values on voluntary activated Extensor Digitorum Communis
Phenytoin for neuroprotection in acute optic neuritis: a randomised, placebo-controlled, phase 2 trial
Safety, tolerability and nocebo phenomena during repetitive transcranial magnetic stimulation: a systematic review and meta-analysis of placebo-controlled clinical trials
Ultra-high-resolution time-frequency analysis of EEG to characterise brain functional connectivity with the application in Alzheimer's disease
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