A Clinicopathologic Case Report of a Female with Valosin-Containing Protein (VCP) Gene Mutation Related Disease
Abhilasha Surampalli, Angele Nalbandian, Sandra Donkervoort, Manaswitha Khare, Annabel Wang, Rudolph Castellani, Hong Yin, Ana Rubio, Payal Patel, John Weiss, Tahseen Mozaffar and Virginia E Kimonis
Article Type: Case Report | First Published: December 19, 2018
Valosin Containing Protein (VCP) gene mutations have been reported in ~1-2% of familial amyotrophic lateral sclerosis (ALS). We report a case of clinically defined and neuropathologically confirmed ALS in a 48-year-old, emaciated female with a p.R155C (c.463 C > T) mutation in VCP gene. She presented with progressive generalized muscular weakness, weight loss, dyspnea on exertion, combined nasal and spastic dysarthria, positive jaw jerk and exaggerated gag reflex. Electrodiagnostic studies revea...
Rare and Hereditary Causes of Stroke-A Literature Review
Eyisi CS, Onwuekwe IO, Eyisi IG and Ekenze O
Article Type: Research Article | First Published: November 19, 2018
A stroke is a Focal (or global) neurological impairment of sudden onset, lasting more than 24 hrs and usually from a vascular cause. Clinical presentation span through a myriad of motor deficits, sensory deficits, seizures, personality/behavioral anomalies, dementia, brainstem stroke syndromes and herniation syndromes. Traditionally stokes are classified as ischemic or hemorrhagic, the former more common than the latter in a ratio of 6:1. Conventional risk factors for stroke occurrence have al...
Multiple Episodes of Full-Body Tremors: An Unexpected Adverse Effect during an Alzheimer's Disease Investigational Drug Study
Jeffrey T Apter, Ivy A Billones and Kaylee White
Article Type: Case Report | First Published: November 16, 2018
A 69-year-old Caucasian female experienced multiple episodes of full-body tremors during the extension phase of the clinical study. The investigational drug was taken in the mornings. The patient reported that the AE started six months prior with episodes occurring 1-2 times per week eventually escalating almost daily and was more apparent during midnight hours and upon waking up. Further review of previous progress notes states that the patient denied the AE and even stated full compliance and ...
Apolipoprotein E Fragmentation within Lewy Bodies of the Human Parkinson's Disease Brain
Troy T Rohn and Jacob M Mack
Article Type: Research Article | First Published: February 23, 2018
Although harboring the Apolipoprotein E4 (APOE4) allele is a well-known risk factor in Alzheimer's disease (AD), whether a similar risk holds true for Parkinson's disease (PD) is currently not known. To investigate whether apoE pathology is present in PD, an immunohistochemical study was undertaken with fixed, human PD brain sections from the substantia nigra utilizing a recently characterized antibody that detects an amino-terminal fragment of apoE. This antibody, termed the apoE cleavage fragm...