Familial ALS with extreme phenotypic variability due to the I113T SOD1 mutation.

We describe a large family with amyotrophic lateral sclerosis (ALS) caused by an I113T mutation in superoxide dismuatse type 1 (SOD1). The proband developed symptoms typical for ALS at age 39 years and is still walking five years later. Marked phenotypic variability is manifested by her mother with onset of gait difficulty and decision-making problems at age 67 years and a five-year course marked by progressive mild upper motor neuron weakness, frontotemporal dementia and chorea. An aunt's initial symptoms included foot numbness and an uncle with the mutation is asymptomatic. Penetrance is only 50% at age 60 years and 88% at age 80 years with an 86-year-old woman harboring the mutation and having a normal neurologic examination. This family highlights the extreme variability in age of onset, clinical manifestations, disease progression and penetrance due to the I113T SOD1 mutation.

Intra-arterial thrombolysis in a 2-year-old with cardioembolic stroke.

Recombinant tissue plasminogen activator, although the standard of care for the management of acute ischemic stroke in adults, is used infrequently in children. The authors describe the use of intra-arterial recombinant tissue plasminogen activator in a young child with embolic stroke. Thrombolysis restored flow to the affected middle cerebral artery and appeared to limit the extent of the infarction and the severity of the subsequent neurologic deficits.

Neuroprotection during chemotherapy: a systematic review.

The development of neurotoxicity during antineoplastic therapy is one of the most common reasons for termination or modification of cancer treatment. A number of different agents have been proposed to provide neuroprotection without affecting antitumor efficacy. This review provides an evidence-based summary of neuroprotective medicines, an overview of the literature relating to neuroprotection during cancer treatment and a Neurologist perspective risk assessment and management. Through a systematic review the authors identified 49 papers published to date that report human clinical trials involving potential neuroprotectants in adults. Case reports and series completed in a prospective fashion were also included. Sensory neuropathies were the most prevalent subtype in the literature, and most were at least partially reversible with or without neuroprotective treatment. The majority of study medications had minimal side effects, though 2 trials were prematurely terminated because of adverse patient outcomes. No study reported an effect on antitumor efficacy. Because of the variability in study design, cancer type, outcome measures, and clinical confirmation of neuropathy, meta-analysis could not be appropriately performed. We highlight risk factors and discuss neuropathy screening. Descriptive analysis is provided which reveals that many of the agents studied were likely to confer some at least some neuroprotective benefit.

Comparison of three algorithms for multi-motor unit detection and waveform marking.

Quantitative EMG (QEMG) techniques include automated motor unit action potential (MUAP) detection and marking of clinically useful waveform metrics. Different computer algorithms are available on modern EMG machines to perform these operations rapidly. However, the efficiency and accuracy of available algorithms are rarely directly compared. We have assessed three commercially available algorithms using both synthesized and biologic interference patterns and found differences among algorithms, some of which are clinically significant. Our results point out the importance of assessing for duplicate MUAPs (same waveform detected as two separate waveforms) and accuracy of markings used to determine MUAP metrics.