4 results match your criteria: "Neurology Department Westmead Hospital Westmead New South Wales Australia.[Affiliation]"

Background: Variants in have been recently associated with a spectrum of neurological disease encompassing isolated dystonia to fever-related neurological decompensation, movement disorders and leukodystrophy.

Case: A 32-year old patient presented with childhood-onset episodes of neurological decompensation after febrile illness, progressive anarthria, dystonia and spasticity. The T2/FLAIR MRI showed bilateral posterolateral putamen hyperintensities and white matter changes suggestive of leukodystrophy.

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Background: The head retraction reflex (HRR) is characterized by the extension of the neck after percussion stimulation of the central facial region. It is either absent or habituates in normal individuals and can become exaggerated and persistent in certain pathological conditions, having been most commonly reported in hyperekplexia and stiff-person syndrome disorders. It has not, however, been reported in Niemann-Pick type C (NPC), a lipid storage disorder with a variety of neurologic and systemic manifestations.

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