Bilateral Ptosis due to Sympathetic Dysfunction as a Feature of Guillain-Barre Syndrome.

This case-control study demonstrates that bilateral ptosis due to ocular sympathetic dysfunction is a characteristic feature of Guillain-Barre syndrome (GBS) and apraclonidine can be helpful in unmasking this clinical feature. Five patients with GBS and 9 healthy controls were assessed for ocular sympathetic dysfunction through application of topical apraclonidine to 1 eye. Changes resulting from reversal of ptosis or miosis due to apraclonidine were compared with the eye on the other side with no apraclonidine using photographs.

Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).

Objective: To extend the phenotypic description of Charcot-Marie-Tooth disease (CMTX1) and to draw new genotype-phenotype relationships.

Methods: Mutations in cause the main X-linked form of CMTX (CMTX1). We report cross-sectional data from 160 patients (from 120 different families, with 89 different mutations) seen at the Inherited Neuropathies Consortium centers.

Carpal tunnel syndrome in inherited neuropathies: A retrospective survey.

Introduction: This study evaluates carpal tunnel syndrome (CTS) symptom severity, functional status, and outcome of CTS therapies in patients with inherited neuropathies.

Methods: Validated questionnaires were used to compare symptom severity and functional status in patients with and without a diagnosis of CTS and a diagnosis of an inherited neuropathy.

Results: 309 patients with inherited neuropathies participated in this study.

Episodic weakness and Charcot-marie-tooth disease due to a mitochondrial MT-ATP6 mutation.

Introduction: Episodic muscle weakness is the hallmark of a heterogeneous group of disorders known as periodic paralysis. A majority are due to single nucleotide mutations causing membrane depolarization.

Methods: We report 2 family members with chronic, slowly progressive, distal axonal neuropathy, or Charcot-Marie-Tooth disease type 2 (CMT2) and episodic weakness resembling periodic paralysis.

Chiral shift reagent for amino acids based on resonance-assisted hydrogen bonding.

[structure: see text] A chiral aldehyde that forms resonance-assisted hydrogen bonded imines with amino acids has been developed. This hydrogen bond not only increases the equilibrium constant for imine formation but also provides a highly downfield-shifted NMR singlet for evaluating enantiomeric excess and absolute stereochemistry of amino acids.

Autocatalytic asymmetric reduction of 2,6-diacetylpyridine.

[reaction: see text] We report here that the C(2)-symmetric diol 2,6-bis(1-hydroxyethyl)pyridine (2) can effect chiral-catalyzed reduction of 2,6-diacetylpyridine (1) and produce more of the diol (2) with the same configuration in an enantiomerically enriched form. The two carbonyl functionalities of (1) are reduced in 90% conversion to produce the enantio-enriched C(2)-symmetric diol (40% ee, 47% de) using zinc trifluoromethanesulfonate and a catalytic amount of the chiral C(2)-symmetric diol (2).