<i>SQSTM1</i> mutation: Description of the first Tunisian case and literature review

Akkari, Manel; Kraoua, Ichraf; Klaa, Hédia; Benrhouma, Hanène; Younes, Thouraya Ben; Rouissi, Aida; Chaâbouni, M; Youssef-Turki, Ilfghem Ben

doi:10.1002/mgg3.1543

Cited by 6 publications

(6 citation statements)

References 12 publications

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“…Waddling gait, neck flexion weakness, and positive Beevor's sign were characteristic, while distal strength was preserved; previously reported systemic involvement, such as dyspnea and arrhythmia, was not present. Nonsense mutations in SQSTM1 were also associated with frontotemporal dementia and progressive ataxia movement disorders in previous studies (17,18). Other SQSTM1-linked phenotypes (e.g., PDB, ALS, and FTD) were excluded based on examinations, suggesting that the muscle was selectively involved.…”

Section: Discussionmentioning

confidence: 78%

Frameshift mutation in SQSTM1 causes proximal myopathy with rimmed vacuoles: A case report

Shao²,

Li³

et al. 2023

Front. Neurol.

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p62/Sequestosome-1 (SQSTM1) is a stress-inducible scaffold protein involved in multiple cellular processes, including apoptosis, inflammation, cell survival, and selective autophagy. SQSTM1 mutations are associated with a spectrum of multisystem proteinopathy, including Paget disease of the bone, amyotrophic lateral sclerosis, frontotemporal dementia, and distal myopathy with rimmed vacuoles (MRV). Herein, we report a new phenotype of SQSTM1-associated proteinopathy, a novel frameshift mutation in SQSTM1 causing proximal MRV. A 44-year-old Chinese patient presented with progressive limb–girdle weakness. She had asymmetric proximal limb weakness and myopathic features on electromyography. The magnetic resonance images showed fatty infiltration into muscles, predominantly in the thighs and medial gastrocnemius, sparing the tibialis anterior. Muscle histopathology revealed abnormal protein deposition, p62/SQSTM1-positive inclusions, and rimmed vacuoles. Next-generation sequencing showed a novel pathogenic SQSTM1 frameshift mutation, c.542_549delACAGCCGC (p. H181Lfs*66). We expanded the pathogenic genotype of SQSTM1 to include a new, related phenotype: proximal MRV. We suggest that SQSTM1 variations should be screened in cases of proximal MRV.

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Section: Discussionmentioning

confidence: 78%

Frameshift mutation in SQSTM1 causes proximal myopathy with rimmed vacuoles: A case report

Shao²,

Li³

et al. 2023

Front. Neurol.

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“…Heterozygous sequestome 1 ( SQSTM1 ) gene variants have been recently associated with a progressive childhood‐onset neurodegenerative disorder characterized by cognitive decline, ataxia, dystonia, and gaze palsy. Hypergonadotropic hypogonadism has been described in two cases 63,64 …”

Section: Movement Disorders With Hypogonadismmentioning

confidence: 99%

Movement Disorders Associated with Hypogonadism

Gonzàlez‐Latapi

Sousa

Lang

2021

Movement Disord Clin Pract

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A variety of movement disorders can be associated with hypogonadism. Identification of this association may aid in guiding workup and reaching an accurate diagnosis. We conducted a comprehensive and structured search to identify the most common movement disorders associated with hypogonadism. Only Case Reports and Case Series articles were included. Ataxia was the most common movement disorder associated with hypogonadism, including entities such as Gordon‐Holmes syndrome, Boucher‐Neuhäuser, Marinesco‐Sjögren and Perrault syndrome. Tremor was also commonly described, particularly with aneuploidies such as Klinefelter syndrome and Jacob's syndrome. Other rare conditions including mitochondrial disorders and Woodhouse‐Sakati syndrome are associated with dystonia and parkinsonism and either hypo or hypergonadotropic hypogonadism. We also highlight those entities where a combination of movement disorders is present. Hypogonadism may be more commonly associated with movement disorders than previously appreciated. It is important for the clinician to be aware of this association, as well as accompanying symptoms in order to reach a precise diagnosis.

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“…1 Subsequently, further cases were reported (Table S1). [3][4][5][6][7][8][9] Prominent features include cognitive impairment, ataxia, dystonia. and gaze palsy (Table S2).…”

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confidence: 99%

Cognitive Impairment, Ataxia, Dystonia, and Gaze Palsy Due to a Novel Variant in SQSTM1: New Lessons

Garg,

Kapoor,

Ahmad

et al. 2024

Movement Disorders

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SQSTM1 mutation: Description of the first Tunisian case and literature review

Abstract: This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

Cited by 6 publications

References 12 publications

Frameshift mutation in SQSTM1 causes proximal myopathy with rimmed vacuoles: A case report

Frameshift mutation in SQSTM1 causes proximal myopathy with rimmed vacuoles: A case report

Movement Disorders Associated with Hypogonadism

Cognitive Impairment, Ataxia, Dystonia, and Gaze Palsy Due to a Novel Variant in SQSTM1: New Lessons

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