Publications by authors named "Jignesh J Shah"

An isolated third nerve palsy presenting as the primary manifestation of a lymphoma is rare, with only few cases having been described. The present study reports an unusual case of a healthy 67-year old male diagnosed with isolated right oculomotor nerve palsy (ONP), who was found to have an underlying B cell lymphoma. The patient's medical records were accessed upon consent.

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To determine the genetic basis of familial frontotemporal lobar degeneration (FTLD) with amyotrophic lateral sclerosis (ALS) we performed a clinical and genetic analysis of an affected family. A 51-year-old man with behavioral variant FTLD with ALS had a family history of the disease suggestive of autosomal dominant inheritance with incomplete penetrance. Genetic studies in this patient demonstrated the presence of an amplified hexanucleotide repeat (>30) polymorphism in the chromosome 9 open reading frame 72 (C9ORF72) gene which was previously identified as a cause of FTLD.

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