Neuropathy of the suprascapular nerve and massive rotator cuff tears: a prospective electromyographic study.

Background: An association between massive rotator cuff tear (RCT) and suprascapular nerve neuropathy has previously been suggested. The anatomic course of the suprascapular nerve is relatively fixed along its passage. Thus, injury to the nerve by trauma, compression, and iatrogenic reasons is well documented.

A new MPZ mutation associated with a mild CMT1 phenotype presenting with recurrent nerve compression.

P0 is a transmembrane protein of the immunoglobulin superfamily that plays a role in myelin structure and function. Myelin protein zero gene (MPZ) mutations usually cause a demyelinating variant of Charcot-Marie-Tooth disease type 1B (CMT1B), but there is a wide spectrum of phenotypic manifestation of these mutations. We describe three patients from one family and one separate patient who presented with a demyelinating neuropathy.

Large CACNA1A deletion in a family with episodic ataxia type 2.

Background: Episodic ataxia (EA) is an ion channel disorder that manifests as paroxysmal attacks of imbalance and incoordination. Episodic ataxia type 2 (EA2) is characterized by prolonged episodes of ataxia with interictal nystagmus and is caused by mutations in CACNA1A. All mutations identified thus far (to our knowledge) are nonsense or missense point mutations.