There are many causes of cerebellar ataxia (CA) including neurodegeneration and autoimmunity. We detected antiseizure-related 6 homolog-like 2 (Sez6l2) antibody from the serum of a patient with subacute CA.1 In this study, we conducted an 11-year follow-up of a previously reported female (case 1)1 and reported two new cases (case 2 and case 3) of Sez6l2 antibody-positive CA in Japan (online supplemental table 1).
Birt-Hogg-Dubé (BHD) syndrome, caused by germline alteration of folliculin (FLCN) gene, develops hybrid oncocytic/chromophobe tumour (HOCT) and chromophobe renal cell carcinoma (ChRCC), whereas sporadic ChRCC does not harbor FLCN alteration. To date, molecular characteristics of these similar histological types of tumours have been incompletely elucidated.
The excitatory glutamate α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid receptors (AMPARs) contribute to epileptogenesis. Thirty patients with epilepsy and 31 healthy controls are scanned using positron emission tomography with our recently developed radiotracer for AMPARs, [11C]K-2, which measures the density of cell-surface AMPARs.
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