Diagnosis and management of progressive ataxia in adults.

Progressive ataxia in adults can be difficult to diagnose, owing to its heterogeneity and the rarity of individual causes. Many patients remain undiagnosed ('idiopathic' ataxia). This paper provides suggested diagnostic pathways for the general neurologist, based on Ataxia UK's guidelines for professionals.

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.

A case of voltage-gated potassium channel antibody-related limbic encephalitis.

Background: A 56-year-old man presented to hospital with a 6-month history of recurrent episodes of altered behavior and 'odd' episodes. He had become apathetic and uninterested in his family. He had no relevant past medical or family history.

Frontal lobe dysfunction in sporadic hyperekplexia--case study and literature review.

Hyperekplexia (HE), or startle disease, is usually a familial disorder associated with mutations in the glycine receptor alpha1 subunit gene (GLRA1), characterised by exaggerated startle reactions to unexpected auditory, somaesthetic and visual stimuli. Non-familial cases may be idiopathic, or associated with pathology usually in the brainstem or rarely in the supratentorial compartment. The pathophysiological basis of HE is unclear.

Acquired narcolepsy in an acromegalic patient who underwent pituitary irradiation.

The authors report the case of a 60-year-old man with acromegaly, who developed narcolepsy 2 weeks after completing radiotherapy for a pituitary adenoma. Cataplexy and sleepiness were predominant symptoms. Onset of narcolepsy is unusual at this age and the temporal relationship following radiotherapy suggests this treatment was implicated.