Stop testing for autoantibodies to the VGKC-complex: only request LGI1 and CASPR2.

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Autoantibodies to leucine-rich glioma-inactivated 1 (LGI1) and contactin-associated protein like-2 (CASPR2) are associated with clinically distinctive syndromes that are highly immunotherapy responsive, such as limbic encephalitis, faciobrachial dystonic seizures, Morvan’s […]

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Acute intermittent porphyria presenting with posterior reversible encephalopathy syndrome (PRES) and abdominal pain.

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Acute intermittent porphyria is a rare genetic condition in which disrupted haem synthesis causes overproduction of porphyrin precursors. Occasionally, it is associated with posterior reversible encephalopathy syndrome (PRES), presenting with […]

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DCTN1-related Parkinson-plus disorder (Perry syndrome).

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Dynactin-1 (DCTN1)-related Parkinson-plus disorder (Perry syndrome) is an autosomal dominant neurodegenerative disorder characterised by levodopa-resistant parkinsonism, weight loss, mood change and central hypoventilation. Ventilatory insufficiency is the predominant cause of […]

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Facial myokymia in inherited peripheral nerve hyperexcitability syndrome.

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Peripheral nerve hyperexcitability syndrome comprises a heterogeneous group of diseases, clinically characterised by myokymia, fasciculation, muscle cramps and stiffness. The causes are either immune mediated or non-immune mediated. Non-immune-mediated forms […]

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