Crum, Brian A.

ABSTRACTIntroduction: Mycophenolate mofetil (MMF) is frequently used to treat myasthenia gravis, but there is little information to guide clinicians on the safety of reducing the dose in well‐controlled patients. Methods: This retrospective chart review at 3 institutions identified 92 patients who had undergone MMF taper after achieving either pharmacologic remission or minimal manifestations status. Statistical analysis was performed to assess differences in patient characteristics between patients who had successfully tapered MMF and those who relapsed. Results: Of 92 patients undergoing a taper, 30 relapsed. The relapses were mild, transient, and usually responded to increased MMF dose. MG crisis did not occur. The mean dose at time of relapse was 888 mg/day. Patients with relapses were tapered more quickly (8.4 vs. 62.4 months). Conclusions: Tapering MMF appears safe after years of disease stability. Reducing the dose at a dose of only 500 mg/day every 12 months is recommended. Muscle Nerve 52: 211–215, 2015

ABSTRACTIntroductionNeurolymphomatosis (NL) is a rare disorder characterized by invasion of cranial or peripheral nerves, nerve roots, or plexi, usually by aggressive subtypes of non‐Hodgkin lymphoma (NHL). The most common clinical presentation is that of a painful polyneuropathy or polyradiculopathy, followed by cranial neuropathy and, less frequently, by painless polyneuropathy.MethodsClinical and pathologic findings are reported for 2 NL cases.ResultsThe following 2 patients with NL, with disparate clinical presentations, are presented: a patient with subacute onset, painful, multifocal, mixed axonal and demyelinating radiculoplexus neuropathy due to a large B‐cell NHL, who required 2 targeted fascicular nerve biopsies to demonstrate NL; and a patient with a slowly progressive, length‐dependent axonal polyneuropathy due to a low‐grade B‐cell lymphoproliferative disorder, as shown on a diagnostic sural nerve biopsy.ConclusionsThe cases described illustrate the wide clinical spectrum of NL. Muscle Nerve 52:449–454, 2015

Background and purposeAnoctamin 5 (ANO5) is a putative intracellular calcium‐activated chloride channel. Recessive mutations in ANO5 cause primary skeletal muscle disorders (limb‐girdle muscular dystrophy 2L and distal muscular dystrophy), which are phenotypically similar to dysferlinopathy, a muscular dystrophy due to dysferlin‐encoding gene (DYSF) mutations.MethodsThis study reports the phenotype and genotype of seven unrelated patients with ANO5‐muscular dystrophy.ResultsThree patients had amyloid deposition in muscle and two had cardiac involvement. An additional patient without skeletal muscle amyloidosis had cardiac involvement with septal hypokinesis and supraventricular tachycardia requiring ablation. Amyloid subtyping using laser capture microdissection and mass spectrometry‐based proteomic analysis did not identify ANO5 or any fragment of ANO5 in the amyloid deposits, but detected other known amyloidogenic proteins. Three patients had myotonic discharges without clinical myotonia. Four ANO5 mutations are novel, including a heterozygous 0.4 Mb deletion involving the entire ANO5 gene.ConclusionsThe results of the present study suggest that ANO5 mutations can be associated with amyloid deposition in muscle, but the nature of the amyloid deposits remains indeterminate, as does their relationship with cardiac involvement. ANO5 analysis should be considered in cases of muscle amyloid deposition of indeterminate etiology. Electrical myotonia can accompany ANO5‐muscular dystrophy.