title: Autosomal dominant neuromuscular disease with cylindrical spirals.
abstract: Cylindrical spirals (CS) have been reported in muscle biopsies from five individual cases, as well as in two belonging to one family where there was another affected member, clinically associated with cramps, pain, stiffness and/or weakness. Here we studied muscle biopsies of a 70-yr-old mother and her 52-yr-old son, the latter with an associated neuropathy, both with late clinical onset in whose family at least 10 other members, spanning five generations, were diversely affected by muscular weakness, gait disorders, motor impairment and/or scoliosis, featuring an autosomal dominant trait with variable expression. CS as the main pathological findings were observed by light microscopy mostly in type 2 fibres, consisting of subsarcolemmal or intermyofibrillar granular and/or rod-like clusters, bluish with haematoxylin, bright red with Gomori's modified trichrome, non- or lightly reactive with PAS, faintly coloured with NADH-TR, non-reactive with SDH or ATPase, strongly stained with non-specific esterase and myoadenylate deaminase. Ultrastructurally, CS appeared as concentrically wrapped lamellae 1-2 microns in diameter. On occasion CS merged into tubular vesicular structures strongly resembling tubular aggregates (TA). Dilation of terminal cisternae (TC) in their proximity supports an origin from the sarcoplasmic reticulum (SR). Variable gene expression possibly explains both the highly diverse clinical compromise and time of onset.
authors.affiliation: Department of Neuropathology, Instituto de Investigaciones Neurologicas Raúl Carrea, Buenos Aires, Argentina.
authors.forename: A L
authors.initials: AL
authors.lastname: Taratuto
authors.forename: M
authors.initials: M
authors.lastname: Matteucci
authors.forename: C
authors.initials: C
authors.lastname: Barreiro
authors.forename: M
authors.initials: M
authors.lastname: Saccolitti
authors.forename: G
authors.initials: G
authors.lastname: Sevlever
mesh_terms: D000328:Adult; D000368:Aged; D001706:Biopsy; D002648:Child; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D009132:Muscles / Q000473:pathology / Q000648:ultrastructure*; D009210:Myofibrils / Q000648:ultrastructure*; D009468:Neuromuscular Diseases / Q000235:genetics* / Q000473:pathology*; D015388:Organelles / Q000648:ultrastructure*; D010375:Pedigree; D012508:Sarcolemma / Q000648:ultrastructure*