scholarly journals Limb Girdle Muscular Dystrophy due to Digenic Inheritance of DES and CAPN3 Mutations

2018 ◽  
Vol 10 (3) ◽  
pp. 272-278 ◽  
Author(s):  
Leema Reddy Peddareddygari ◽  
Kinsi Oberoi ◽  
Raji P. Grewal
Keyword(s):  
Magnetic Resonance Imaging ◽  
Inflammatory Myopathy ◽  
Gene Variant ◽  
Initial Visit ◽  
Inheritance Pattern ◽  
Resonance Imaging ◽  
Digenic Inheritance ◽  
Whole Exome ◽  
Progressive Weakness ◽  
Capn3 Gene

We report the clinical and genetic analysis of a 63-year-old man with progressive weakness developing over more than 20 years. Prior to his initial visit, he underwent multiple neurological and rheumatological evaluations and was treated for possible inflammatory myopathy. He did not respond to any treatment that was prescribed and was referred to our center for another opinion. He underwent a neurological evaluation, electromyography, magnetic resonance imaging of his legs, and a muscle biopsy. All testing indicated a chronic myopathy without inflammatory features suggesting a genetic myopathy. Whole-exome sequencing testing more than 50 genes known to cause myopathy revealed variants in the COL6A3 (rs144651558), RYR1 (rs143445685), CAPN3 (rs138172448), and DES (rs144901249) genes. We hypothesized that the inheritance pattern could follow a digenic pattern of inheritance. Screening for these polymorphisms in an unaffected sister revealed the presence of all these same variants except for that in the CAPN3 gene. All variants were studied to determine their frequency and if they had been previously reported as mutations. They were also subjected to protein modeling programs, including SIFT, PolyPhen, and MutationTaster. This analysis indicated that the CAPN3 variant c.1663G>A (rs138172448), which results in a p.Val555Ile change, and the DES gene variant c.656C>T (rs144901249), which results in a p.Thr219Ile change, are both predicted to be damaging. These 2 variants were further investigated employing the STRING program that analyzes protein networks and pathways. This analysis provided further support for our hypothesis that these mutations in the CAPN3 and DES genes, through digenic inheritance, are the cause of the myopathy in this patient.

scholarly journals Luminal and Wall Changes in Intracranial Arterial Lesions for Predicting Stroke Occurrence

Stroke ◽  
2020 ◽  
Vol 51 (8) ◽  
pp. 2495-2504 ◽  
Author(s):  
Hyung Jun Kim ◽  
Eun-Hyeok Choi ◽  
Jong-Won Chung ◽  
Jae-Hwan Kim ◽  
Ye Sel Kim ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
High Resolution ◽  
Moyamoya Disease ◽  
Ring Finger ◽  
Stroke Recurrence ◽  
Large Artery ◽  
Gene Variant ◽  
Resonance Imaging ◽  
Asian Patients

Background and Purpose: Luminal imaging (degree of stenosis) currently serves as the gold standard to predict stroke recurrence and guide therapeutic strategies in patients with intracranial large artery diseases (ILADs). We comparatively evaluated the importance of vessel wall and luminal changes in predicting stroke occurrence. Methods: Consecutive patients with ILAD in the proximal middle cerebral artery or distal internal carotid artery without proximal sources of embolism from the carotid and heart underwent time-of-flight magnetic resonance angiography, high-resolution magnetic resonance imaging, and the ring finger protein 213 ( RNF213 ) gene variant test. Patients were followed up for >3 months. Results: Of the 675 patients, 241 (35.7%) had atherosclerotic ILAD and 434 (64.3%) showed nonatherosclerotic ILAD (315 [46.7%] moyamoya disease cases and 119 [17.6%] dissection cases). The RNF213 variant was detected in 74.9%, 33.6%, and 3.4% patients with moyamoya disease, atherosclerosis, and dissection, respectively. Three hundred (44.4%) patients had asymptomatic ILAD, whereas 375 (55.6%) patients had symptomatic ILAD. Multivariate analysis showed that vessel enhancement and etiological subtypes, not degree of stenosis, determined by high-resolution magnetic resonance imaging and RNF213 gene variant analysis were independently associated with symptomatic ILAD. The presence of the RNF213 variant was also independently associated with recurrent cerebrovascular events. Conclusions: This study demonstrates the prevalence of nonatherosclerotic ILAD in East Asian patients with ILAD. Unlike luminal changes, wall changes determined by high-resolution magnetic resonance imaging and presence of the RNF213 variant could predict stroke occurrence in patients with ILADs.

Progressive, repeated lumbar compression fracture at the same level after vertebral kyphoplasty with calcium phosphate cement

2007 ◽  
Vol 6 (6) ◽  
pp. 559-562 ◽  
Author(s):  
Dong-Hwa Heo ◽  
Sung-Uk Kuh
Keyword(s):  
Magnetic Resonance Imaging ◽  
Calcium Phosphate ◽  
Calcium Phosphate Cement ◽  
Compression Fracture ◽  
Regional Hospital ◽  
Resonance Imaging ◽  
Fusion Surgery ◽  
Compression Fractures ◽  
Motor Strength ◽  
Progressive Weakness

✓ The authors report a case of vertebral body collapse after kyphoplasty in which calcium phosphate cement (CPC) was used. The patient, a 69-year-old woman in whom an L-1 compression fracture had been revealed on magnetic resonance imaging, had been treated at another regional hospital for the compressed vertebra. Kyphoplasty in which CPC was used had been performed at that time. Two months later, she suffered from severe upper back pain, which was the same as the previously existing pain, and she experienced progressive weakness of both lower extremities (motor strength Grade 4/5). A more severe compression of the L-1 vertebra was revealed, and thecal sac compression caused by retrobulging of the CPC on the collapsed L-1 vertebra was present 5 months posttreatment. The authors performed decompression and fusion surgery to treat the repeatedly collapsed L-1 vertebra. They suggest that the use of CPC in vertebrae with compression fractures should be reconsidered.

scholarly journals Clinical, serologic and magnetic resonance imaging of 3 cases of inflammatory myopathy with abundant macrophages in the Japanese population

2010 ◽  
Vol 33 (4) ◽  
pp. 1059-1064 ◽  
Author(s):  
Shintaro Hara ◽  
Tomoko Henmi ◽  
Atsushi Kawakami ◽  
Keita Fujikawa ◽  
Hiroshi Mukae ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Japanese Population ◽  
Inflammatory Myopathy ◽  
Resonance Imaging

scholarly journals A Muscle Biosignature Differentiating Between Limb-Girdle Muscular Dystrophy and Idiopathic Inflammatory Myopathy on Magnetic Resonance Imaging

2021 ◽  
Vol 12 ◽  
Author(s):  
Wen-Chi Hsu ◽  
Yu-Ching Lin ◽  
Hai-Hua Chuang ◽  
Kun-Yun Yeh ◽  
Wing P. Chan ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Muscular Dystrophy ◽  
Inflammatory Myopathy ◽  
Idiopathic Inflammatory Myopathy ◽  
High Grade ◽  
Resonance Imaging ◽  
Adductor Magnus ◽  
Fat Substitution ◽  
Muscle Groups

Background: The overlapping clinical presentations of limb-girdle muscular dystrophy (LGMD) and idiopathic inflammatory myopathy (IIM) make clinical diagnosis challenging. This study provides a comprehensive evaluation of the distributions and characteristics of muscle fat substitution and edema and aims to differentiate those two diseases.Methods: This retrospective study reviewed magnetic resonance imaging (MRI) of seventeen patients with pathologically proved diagnosis, comprising 11 with LGMD and 6 with IIM. The fat-only and water-only images from a Dixon sequence were used to evaluate muscle fat substitution and edema, respectively. The degrees of muscle fat substitution and edema were graded and compared using the appropriate statistical methods.Results: In LGMD, more than 50% of patients had high-grade fat substitution in the majority of muscle groups in the thigh and calf. However, <50% of IIM patients had high-grade fat substitution in all muscle groups. Moreover, LGMD patients had significantly higher grade fat substitution than IIM patients in all large muscle groups (p < 0.05). However, there was no significant difference in edema in the majority of muscle groups, except the adductor magnus (p = 0.012) and soleus (p = 0.009) with higher grade edema in IIM. Additionally, all the adductor magnus muscles in LGMD (100%) showed high-grade fat substitution, but none of them showed high-grade edema.Conclusions: MRI could be a valuable tool to differentiate LGMD from IIM based on the discrepancy in muscle fat substitution, and the adductor magnus muscle could provide a biosignature to categorizing LGMD.

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