2018
DOI: 10.3389/fneur.2018.00147
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Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features

Abstract: ObjectiveThe aim of this study is to identify the molecular defect of three unrelated individuals with late-onset predominant distal myopathy; to describe the spectrum of phenotype resulting from the contributing role of two variants in genes located on two different chromosomes; and to highlight the underappreciated complex forms of genetic myopathies.Patients and methodsClinical and laboratory data of three unrelated probands with predominantly distal weakness manifesting in the sixth-seventh decade of life,… Show more

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Cited by 29 publications
(42 citation statements)
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References 27 publications
(44 reference statements)
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“…The coexistence of a TIA1 variant (p.Asn357Ser) and a pathogenic sequestosome‐1 (SQSTM1) variant has been recently recognized as a cause of distal myopathy. Patients with the combined TIA1‐SQSTM1 variants manifest in the 5th decade of life or later with weakness of the finger extensors, often preceding that of the ankle dorsiflexor muscles . Hypercapnic respiratory insufficiency, secondary to respiratory muscle weakness, preceded the onset of the distal weakness in one patient .…”
Section: Digenic Distal Myopathy Sqstm1‐tia1mentioning
confidence: 93%
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“…The coexistence of a TIA1 variant (p.Asn357Ser) and a pathogenic sequestosome‐1 (SQSTM1) variant has been recently recognized as a cause of distal myopathy. Patients with the combined TIA1‐SQSTM1 variants manifest in the 5th decade of life or later with weakness of the finger extensors, often preceding that of the ankle dorsiflexor muscles . Hypercapnic respiratory insufficiency, secondary to respiratory muscle weakness, preceded the onset of the distal weakness in one patient .…”
Section: Digenic Distal Myopathy Sqstm1‐tia1mentioning
confidence: 93%
“…Patients with the combined TIA1‐SQSTM1 variants manifest in the 5th decade of life or later with weakness of the finger extensors, often preceding that of the ankle dorsiflexor muscles . Hypercapnic respiratory insufficiency, secondary to respiratory muscle weakness, preceded the onset of the distal weakness in one patient . The weakness can extend to the proximal muscles, clinically or subclinically, and the involvement can be detected by MRI studies.…”
Section: Digenic Distal Myopathy Sqstm1‐tia1mentioning
confidence: 99%
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“…The very poor genotype-phenotype correlation may be due to the interaction of additional genetic factors that may explain the observation of patients with HSP7 phenotypes associated with single heterozygous mutations S anchez-Ferrero et al, 2013). There is precedent for the interaction of different Mendelian disease genes causing unique phenotypes (Balci et al, 2017;Posey et al, 2017), and detailed study of such situations can produce novel mechanistic insights (Lee et al, 2018;Niu et al, 2018). Given the extensive unexplained heterogeneity in HSP, particularly in SPG7-and SPAST-related disease, these conditions would appear to be the best candidates for study, to identify novel modifier mechanisms.…”
Section: Discussionmentioning
confidence: 99%
“…Multisystem proteinopathy was also subsequently described in association with mutations in SQSTM1 , an adaptor protein involved in recruitment of ubiquitinated protein aggregates to autophagosomes. SQSTM1 mutations have been found to cause ALS, FTD, and PDB as well as a digenically inherited myopathy in combination with a variant in TIA1 …”
Section: Clinical Features Of Multisystem Proteinopathiesmentioning
confidence: 99%