Dysphagia in patients with frontotemporal lobar dementia.

Background: Hyperorality, compulsive eating and aspiration because of food gorging, has been described in patients with frontotemporal lobar dementia (FTLD), but swallowing function in this population has not been reported.

Objective: To identify the swallowing status in a sample of patients with FTLD.

Design: Case series.

Proposed modification to data analysis for statistical motor unit number estimate.

Motor unit number estimation (MUNE) is an important electrophysiological technique for quantitative measurement of motor neuron loss. Although commonly used, there is no consensus concerning the optimal procedure for statistical MUNE, particularly regarding several operator-dependent variables. To assess the variables, we analyzed 500 sequential, submaximal compound muscle action potential (CMAP) responses at three or four stimulus intensities in 10 controls and 10 patients with amyotrophic lateral sclerosis (ALS).

Consensus criteria for the diagnosis of multifocal motor neuropathy.

At this time, there are no widely accepted criteria for the diagnosis of multifocal motor neuropathy. Furthermore, there is insufficient empirical data to define clinical and laboratory features that may reliably separate certain lower motor neuron syndromes with overlapping features as distinct. The AAEM therefore developed five criteria through a formal consensus process that are described in this document to act as a guide for diagnosing multifocal motor neuropathy with a high level of confidence (definite multifocal motor neuropathy) or with a moderate level of confidence (probable motor neuropathy).

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous disorder that has been associated with alterations of several proteins: peripheral myelin protein 22, myelin protein zero, connexin 32, early growth response factor 2, periaxin, myotubularin related protein 2, N-myc downstream regulated gene 1 product, neurofilament light chain, and kinesin 1B. To determine the frequency of mutations in these genes among patients with CMT or a related peripheral neuropathy, we identified 153 unrelated patients who enrolled prior to the availability of clinical testing, 79 had a 17p12 duplication (CMT1A duplication), 11 a connexin 32 mutation, 5 a myelin protein zero mutation, 5 a peripheral myelin protein 22 mutation, 1 an early growth response factor 2 mutation, 1 a periaxin mutation, 0 a myotubularin related protein 2 mutation, 1 a neurofilament light chain mutation, and 50 had no identifiable mutation; the N-myc downstream regulated gene 1 and the kinesin 1B gene were not screened for mutations. In the process of screening the above cohort of patients as well as other patients for CMT-causative mutations, we identified several previously unreported mutant alleles: two for connexin 32, three for myelin protein zero, and two for peripheral myelin protein 22.