Lafora body disease (MIM-254780), a glycogen storage disease, characterized by Lafora bodies (deformed glycogen molecules) accumulating in multiple organs, is a rare form of myoclonic epilepsy. It manifests in early adolescent years, initially with seizures and myoclonus, followed by dementia and progressive cognitive decline, ultimately culminating in death within 10 years. In Pakistan so far 5 cases have been reported. Here, we report a new case of Lafora body disease belonging to a consanguineous family from Pakistan. Histopathological analysis confirmed presence of lafora bodies in the patient`s skin. Sanger sequencing revealed novel homozygous 5bp deletion mutation (NM_005670.4; c.359_363delGTGTG) in exon 2 of the gene, which was truly segregated in the family. These results will increase our understanding regarding the aetiology of this disorder and will further add to the mutation spectrum of gene.

Typical West Nile virus paralysis is characterized by muscle weakness, decreased tone, and loss of deep tendon reflexes attributed to destruction of anterior horn cells. Two cases in which deep tendon reflexes were initially preserved in the presence of profound and persistent muscle weakness are presented here. In both cases, deep tendon reflexes were later severely attenuated or lost, while weakness of the involved muscles remained profound and unchanged. Both patients showed good motor recovery at 6 months. Initial preservation of deep tendon reflexes in the presence of persistent muscle weakness indicates that in the early stages of disease, the muscle weakness in these two cases was not caused by destruction of anterior horn cells. Pathology involving anterior horns preceding AHC destruction could potentially disrupt upper motor neuron pathways to anterior horn cells, causing weakness with initial preserved deep tendon reflexes.

Neuroimaging biomarkers have potential role in the early diagnosis as well as periodic follow-up of neurodegenerative diseases such as Alzheimer's disease (AD). Structural imaging biomarkers can be used to predict those who are at risk or in preclinical stages of AD. It could possibly be useful even in predicting the conversion of Mild Cognitive Impairment (MCI) an early stage of AD to AD. In addition there has been a lot of progress in molecular imaging in AD. This article presents a review of recent progress in selected imaging biomarkers for early diagnosis, classification, and progression, of AD. A comprehensive integrative strategy initiated early in the cognitive decline is perhaps the most effective method of controlling progression to Alzheimer's disease.