Statistics from Altmetric.com
Amyotrophic lateral sclerosis (ALS) is a progressive disease characterised by degeneration of upper and lower motor neurons. The histological feature of skeletal muscles in ALS is the presence of denervated and reinnervated myofibres including small angulated fibres, grouped atrophy and fibre type grouping. Moreover, target/targetoid fibres (TFs) are frequently observed as abnormal structures of myofibres in ALS. A classic study revealed TFs in 50% of cases of biopsy-proven motor neuron diseases.1 The target fibre was first described as a sign of muscle fibre denervation in 1961.1 The name ‘target fibre’ is derived from its appearance on the transverse section that contains three more or less distinct concentric zones,1 and the central zone contains longitudinally oriented wavelike threads, possibly derived from Z-disc and bundles of myofilaments.2 The components of TFs have been identified as LC3, desmin, αB-crystallin, dystrophin, filamin C and Hsp27.2 However, the biological significance of TFs remains unclear.
In contrast to the neuropathological changes in motor neurons that are assessable at autopsy, histological evaluation of skeletal muscles can be conducted before the death of the patients, which may contribute to diagnosis at an early-stage disease and evaluation of therapeutic efficacy. The present study aimed to determine the biological significance of the formation of TFs in neurogenic muscular atrophy in ALS.
Patients and clinical assessments
We retrospectively analysed the medical records of 17 consecutive patients with ALS who were admitted to the Department of Neurology, Kumamoto University Hospital, from January 2005 to December 2017, and who underwent muscle biopsy to exclude myopathies because they lacked upper motor neuron (UMN) signs and/or showed elevation of serum creatine kinase (CK) levels. We recorded the clinical characteristics as shown in online supplementary table 1.
Muscle biopsy samples had been examined by routine histochemical techniques including a series of myofibrillar adenosine triphosphatase …
KH and KN contributed equally.
Contributors NT and SY developed the concept and design of the article. KH, KN, YM, NT and SY compiled and analysed the pathological data. KH and SY wrote the first draft, and all of the authors critically evaluated the manuscript.
Funding This work was supported by a research grant (20FC1006) from Grant-in-Aid for Research on rare and intractable diseases from the Ministry of Health, Labour, and Welfare of Japan.
Competing interests None declared.
Patient consent for publication Not required.
Ethics approval All experiments were approved by the ethical committee of the Kumamoto University (Senshin no. 2358), and were performed in accordance with the relevant guidelines and regulations required by the Kumamoto University.
Provenance and peer review Not commissioned; externally peer reviewed.
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.