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Inclusion body myositis is the most common idiopathic inflammatory myopathy in elderly individuals. It typically causes proximal and distal limb weakness with forearm flexors and quadriceps being the most severely affected muscles. Axial musculature is infrequently involved. Here, we report an 80-year-old man who presented with an 18-month history of(More)
BACKGROUND Neurodegenerative dementias are typically characterized by an insidious onset and a relatively slowly progressive course. Less common are patients with a rapidly progressive course to death. OBJECTIVE To characterize patients with a neurodegenerative disease and a rapidly progressive course to death. DESIGN, SETTING, AND PATIENTS Using a text(More)
A hexanucleotide repeat expansion in the chromosome 9 open reading frame 72 (C9ORF72) gene was recently discovered as the cause underlying frontotemporal degeneration (FTD) and/or amyotrophic lateral sclerosis (ALS) linked to chromosome 9 (c9FTD/ALS). In this atypical case of c9FTD/ALS, the proband presented with amnestic mild cognitive impairment which(More)
The autosomal dominant ataxias are a heterogenous group of disorders. Almost 30 different genetic loci have been identified. Spinocerebellar ataxia type 2 (SCA2) is one of many autosomal dominant cerebellar ataxias. Electrophysiologic studies in SCA2 have shown mainly a sensory neuropathy or neuronopathy. To determine if electrophysiologic testing reveals(More)
BACKGROUND AND PURPOSE Anoctamin 5 (ANO5) is a putative intracellular calcium-activated chloride channel. Recessive mutations in ANO5 cause primary skeletal muscle disorders (limb-girdle muscular dystrophy 2L and distal muscular dystrophy), which are phenotypically similar to dysferlinopathy, a muscular dystrophy due to dysferlin-encoding gene (DYSF)(More)
OBJECTIVE To characterize the clinical features and MRI abnormalities of leucine-rich glioma-inactivated 1 (LGI1)-autoantibody (Ab) faciobrachial dystonic seizures (FBDS). METHODS Forty-eight patients with LGI1-Ab encephalopathy were retrospectively identified by searching our clinical and serologic database from January 1, 2002, to June 1, 2015. Of(More)
OBJECTIVE Is caffeine effective in preventing and treating postdural puncture headache (PDPH)? METHODS The question was addressed with a structured evidence-based clinical neurologic practice review via videoconferencing between 3 academic institutions. Participants included consultant and resident neurologists, clinical epidemiologists, medical(More)
The authors report the findings of a neuromuscular choristoma of the sciatic nerve in an otherwise healthy 18-year-old man who presented with sensorimotor symptoms and deformities of the right leg and foot. Only a few cases of this rare tumor, also known as "neuromuscular hamartoma" or "benign triton tumor," have been reported in the surgical literature.(More)
OBJECTIVE In patients with symptomatic diabetic polyneuropathy, is oral alpha-lipoic acid (ALA) effective in improving neuropathic symptoms compared with placebo? METHODS The question was addressed with a structured evidence-based clinical neurologic practice review via videoconferencing between 3 academic institutions. Participants included consultant(More)
We present a patient with subacute diencephalic angioencephalopathy (SDAE), a poorly understood syndrome of progressive confusion, disorientation, and dementia that rapidly deteriorates to severe encephalopathy and death. This is the seventh and most thoroughly investigated report of this exceedingly rare diagnosis to date, and we present the first evidence(More)