Sarcotubular Myopathy Due to Novel TRIM32 Mutation in Association with Multiple Sclerosis.

Azerbaijani 28-year-old female showed weakness (MRC (Medical Research Council Scale for Muscle Strength) grade 4 in the proximal part of the upper and MRC grade 2-3 in the lower extremities), difficulty in stair lifting, positive symptom of Hoover's rising, «waddling gait¼, decline deep reflexes symmetrical, lack of surface reflexes, positive Babinsky's reflex on the right, urinary incontinence during sneezing, prolonged walking and exercise from puberty. Additional methods made it possible to identify minor violations of conduction of the left ventricle, electromyography signs of primary muscular disease with predominant involvement of the proximal muscles of the lower extremities, elevation of serum creatine kinase (746.81 U/l), active foci of demyelination in the left frontal lobe, intrathecal synthesis of oligoclonal IgG bands (type 2) in cerebrospinal fluid, atrophy and fatty degeneration of all muscles of the shins, homozygous Variant of Uncertain Significance (VUS) c.1855C > T (p.Pro619Ser) in TRIM32 gene and heterozygous VUS c.2300C > G (p.Thr767Arg) in KIF5A, c.2840G > A (p.Arg947Lys) in MYH2, c.1502G > C (p.Gly501Ala) in POMT1 genes. Comparison of the phenotypes of the mutations that have been identified with the clinical picture of the patient suggests that VUS c.1855C > T (p.Pro619Ser) in the TRIM32 gene can be pathological. Summarizing, it can be argued that the cause of the identified disorders is a homozygous variant c.1855C > T (p.Pro619Ser) in TRIM32 gene that causes LGMDR8 in a patient with MS.

Neuropathological Findings in Ephedrone Encephalopathy.

BACKGROUND: A number of cases of severe parkinsonism-dystonia have been recognized and reported following the illicit use of ephedrone prepared from pseudoephedrine and potassium permanganate. The pathology associated with ephedrone neurotoxicity has not been described yet in the scientific literature. OBJECTIVES: To report the first neuropathological study of ephedrone toxicity. METHODS: The brain of a 33-year-old Ukrainian female ex-ephedrone addict with a long history of l-dopa-unresponsive parkinsonism with dysarthria, dystonia, profound postural instability, cock-gait, and frequent falls, and on antiretroviral treatment, was examined using routine stains and immunohistochemistry. RESULTS: Neuropathological findings included diffuse pallidal astrogliosis without neuronal depletion. There was also widespread vascular pathology with small vessels occluded by foreign material, associated with giant cell response without any evidence of consequent focal infarction and a cerebellar abscess. CONCLUSIONS: Clinical findings of l-dopa-unresponsive parkinsonism with dystonia, caused by illicit use of ephedrone, are fully consistent with neuropathological changes in the pallidum, lack of change in the SN, and preserved tyrosine hydroxylase activity. The findings in the basal ganglia are compatible with manganese toxicity. The vascular pathology is likely a joint effect of infection and the ephedrone toxicity on the vessels. © 2020 International Parkinson and Movement Disorder Society.