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Autosomal dominant neuromuscular disease with cylindrical spirals
A L Taratuto1, M Matteucci, C Barreiro
1Department of Neuropathology, Instituto de Investigaciones Neurologicas Raúl Carrea, Buenos Aires, Argentina.
Neuromuscular Disorders : NMD
|January 1, 1991
Summary
Cylindrical spirals (CS) in muscle biopsies are linked to a rare genetic disorder causing muscle weakness and gait issues. This autosomal dominant condition shows variable expression across generations.
Area of Science:
- Neurology
- Muscle Pathology
- Genetics
Background:
- Cylindrical spirals (CS) are rare pathological findings in muscle biopsies.
- Previous reports include individual cases and a single family with affected members.
- The clinical presentation associated with CS often involves muscle pain, weakness, and cramps.
Observation:
- This study examined muscle biopsies from a mother and son with late-onset, dominantly inherited neuromuscular symptoms.
- Light microscopy revealed CS predominantly in type 2 muscle fibers.
- Ultrastructural analysis showed CS as concentric lamellae, sometimes merging with tubular aggregates (TA).
Findings:
- CS presented as granular or rod-like clusters, with specific staining characteristics (positive for non-specific esterase and myoadenylate deaminase, negative for SDH and ATPase).
- Ultrastructurally, CS measured 1-2 microns in diameter and appeared to originate from the sarcoplasmic reticulum (SR), with dilated terminal cisternae (TC).
- The family exhibited an autosomal dominant inheritance pattern with variable expression, affecting multiple generations with diverse neuromuscular impairments.
Implications:
- The findings suggest CS are a key pathological marker for a specific inherited neuromuscular disorder.
- Variable gene expression is proposed as the cause for the wide range of clinical symptoms and onset times.
- Further research into the genetic basis and molecular mechanisms underlying CS formation is warranted.