Mitochondrial transfer RNA(Phe) mutation associated with a progressive neurodegenerative disorder characterized by psychiatric disturbance, dementia, and akinesia-rigidity.

Background: Mitochondrial diseases are characterized by wide phenotypic and genetic variability, but presentations in adults with akinetic rigidity and hyperkinetic movement disorders are rare.

Objectives: To describe clinically a subject with progressive neurodegeneration characterized by psychosis, dementia, and akinesia-rigidity, and to associate this phenotype with a novel mitochondrial transfer RNA(Phe) (tRNA(Phe)) (MTTF) mutation.

Design, Setting, And Patient: Case description and detailed laboratory investigations of a 57-year-old woman at a university teaching hospital and a specialist mitochondrial diagnostic laboratory.

Unusual amnesia in a patient with VGKC-Ab limbic encephalitis: a case study.

We describe the case of a patient with confirmed voltage-gated potassium channel antibody-associated encephalitis (VGKC-Ab). MRI studies revealed bilateral hyper-intensity in the hippocampi, with their volumes preserved. At presentation, the patient's anterograde and retrograde memory skills were found to be impaired and he showed fluctuation in his ability to recall familiar information.

The neuro-behavioural syndrome of brainstem disease.

We describe two patients with isolated brainstem lesions who exhibited behavioural and cognitive changes that are commonly associated with frontal lobe pathology, as leading clinical features. These cases illustrate the role of distributed neural networks in cognitive and behavioural processes. The brainstem, frontal-subcortical and limbic systems are extensively and reciprocally linked via neurotransmitter projection pathways.