ABSTRACT
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. The CTS symptom severity score (SSS) was found to be the most useful tool in assessing CTS severity in patients with inherited neuropathy. Splint therapy and surgery were associated with significant improvement in carpal tunnel symptoms as measured through the SSS. DISCUSSION: This study provides insight into the assessment of CTS symptom severity and patient-reported outcomes to CTS therapy in individuals with inherited neuropathies. The SSS appears useful for evaluation of CTS symptoms and patient-reported outcomes following CTS interventions in individuals with inherited neuropathies. Muscle Nerve 57: 388-394, 2018.
Subject(s)
Carpal Tunnel Syndrome/diagnosis , Charcot-Marie-Tooth Disease/complications , Median Nerve/physiopathology , Adult , Aged , Carpal Tunnel Syndrome/complications , Carpal Tunnel Syndrome/physiopathology , Charcot-Marie-Tooth Disease/physiopathology , Female , Humans , Male , Middle Aged , Pain Measurement , Retrospective Studies , Severity of Illness IndexABSTRACT
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. Ocular sympathetic dysfunction in the form of mild bilateral ptosis was found in all 5 patients with GBS recruited in this study. Consistent with previous reports, healthy subjects had no significant response to apraclonidine. Although there was evidence of concomitant pupillary dysfunction in the form of bilateral Horner syndrome in 2 of the patients with GBS with more severe GBS phenotype, this study did not have the statistical power to reach conclusions regarding pupillary dysfunction and disease severity in GBS.
Subject(s)
Autonomic Nervous System Diseases/complications , Guillain-Barre Syndrome/physiopathology , Horner Syndrome/etiology , Adult , Aged , Autonomic Nervous System Diseases/etiology , Case-Control Studies , Female , Guillain-Barre Syndrome/diagnostic imaging , Horner Syndrome/diagnosis , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Retrospective Studies , Severity of Illness Index , Young AdultABSTRACT
OBJECTIVE: To extend the phenotypic description of Charcot-Marie-Tooth disease (CMTX1) and to draw new genotype-phenotype relationships. METHODS: Mutations in GJB1 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. RESULTS: We evaluated 87 males who had a mean age of 41 years (range 10-78 years) and 73 females who had a mean age of 46 years (range 15-84 years). Sensory-motor polyneuropathy affects both sexes, more severely in males than in females, and there was a strong correlation between age and disease burden in males but not in females. Compared with females, males had more severe reduction in motor and sensory neurophysiology parameters. In contrast to females, the radial nerve sensory response in older males tended to be more severely affected compared with younger males. Median and ulnar nerve motor amplitudes were also more severely affected in older males, whereas ulnar nerve motor potentials tended to be more affected in older females. Conversely, there were no statistical differences between the sexes in other features of the disease, such as problems with balance and hand dexterity. CONCLUSIONS: In the absence of a phenotypic correlation with specific GJB1 mutations, sex-specific distinctions and clinically relevant attributes need to be incorporated into the measurements for clinical trials in people with CMTX1. CLINICALTRIALSGOV IDENTIFIER: NCT01193075.
Subject(s)
Charcot-Marie-Tooth Disease/genetics , Charcot-Marie-Tooth Disease/physiopathology , Adolescent , Adult , Aged , Aged, 80 and over , Amino Acid Sequence , Child , Connexins/genetics , Cross-Sectional Studies , Family , Female , Genetic Association Studies , Genotyping Techniques , Humans , Male , Middle Aged , Mutation , Neural Conduction/physiology , Phenotype , Sex Characteristics , Young Adult , Gap Junction beta-1 ProteinABSTRACT
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. RESULTS: Next generation sequencing (NGS) identified a mitochondrial MT-ATP6 mutation m.9185T>C (p.Leu220Pro) in both patients, consistent with a previous report of an association with this phenotype. The episodic weakness has been responsive to acetazolamide therapy for a few decades. By contrast, the underlying axonal neuropathy is quite progressive despite treatment with acetazolamide. CONCLUSIONS: Mitochondrial DNA mutations should be considered in patients with a history of episodic weakness and axonal inherited neuropathy (CMT2). The episodic weakness is responsive to acetazolamide therapy, and electrophysiological testing for periodic paralysis with a long exercise protocol is negative in these cases. Muscle Nerve 55: 922-927, 2017.
Subject(s)
Charcot-Marie-Tooth Disease/genetics , Mitochondrial Proton-Translocating ATPases/genetics , Mutation/genetics , Family Health , Female , High-Throughput Nucleotide Sequencing , Humans , Male , Mitochondrial Proton-Translocating ATPases/adverse effects , PhenotypeSubject(s)
Back Muscles/pathology , Glycogen Storage Disease Type II/diagnosis , Late Onset Disorders/diagnosis , Mallory Bodies/pathology , Muscular Dystrophies/diagnosis , Phrenic Nerve/physiopathology , Scoliosis/diagnosis , Aged , Diagnosis, Differential , Glycogen Storage Disease Type II/physiopathology , Humans , Magnetic Resonance Imaging , Male , Neural Conduction , PostureABSTRACT
[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.
Subject(s)
Aldehydes/chemical synthesis , Amino Acids/chemistry , Hydrogen Bonding , Imines/chemistry , Indicators and Reagents , Magnetic Resonance Spectroscopy , Molecular Conformation , Molecular Structure , StereoisomerismABSTRACT
[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).
