Muscle MRI in neutral lipid storage disease (NLSD)

Garibaldi, Matteo; Tasca, Giorgio A.; Díaz‐Manera, Jordi; Ottaviani, P; Laschena, Francesco; Pantoli, Donatella; Gerevini, Simonetta; Maggi, Lorenzo; Tasca, Elisabetta; D’Amico, Adele; Musumeci, Olimpia; Toscano, Antonio; Bruno, Claudio; Massa, Roberto; Angelini, Corrado; Bertini, Enrico; Antonini, Giovanni; Pennisi, E.

doi:10.1007/s00415-017-8498-8

Cited by 17 publications

(9 citation statements)

References 35 publications

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“…Whole body CT-scan and lower limb muscle MRI were obtained following a previously described protocol according to international consensus recommendation [ 6 ].…”

Section: Methodsmentioning

confidence: 99%

Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD

Garibaldi

Fattori

Bortolotti

et al. 2018

acta neuropathol commun

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“…Whole body CT-scan and lower limb muscle MRI were obtained following a previously described protocol according to international consensus recommendation [ 6 ].…”

Section: Methodsmentioning

confidence: 99%

Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD

Garibaldi

Fattori

Bortolotti

et al. 2018

acta neuropathol commun

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“…or Sudan Black staining (Figure 2). Muscle MRI has a role in diagnostic assessment [8]. The whole-body study showed involvement of muscles gluteus minimus, semimembranosus, soleus and gastrocnemius medialis in the lower limbs and infraspinatus in the upper limbs were the most affected muscles, with a specific pattern of muscle involvement with “patchy” areas of fatty replacement, while mm.…”

Section: Diseasesmentioning

confidence: 99%

“…Cellular functional studies can contribute to clarifying the residual enzymatic activity of one specific enzyme in particular cases [6]. The role of MRI, a largely used method of studying myopathies, is still not completely investigated in lipid myopathies but some papers have been published for specific myopathies, as neutral lipid storage disease (NLSD), MTP and Very-Long-Chain Acyl-CoA Dehydrogenase (VLCAD) [7,8,9,10].…”

Section: Introductionmentioning

confidence: 99%

Lipid Myopathies

Pennisi

Garibaldi

Antonini

2018

JCM

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Disorders of lipid metabolism affect several tissues, including skeletal and cardiac muscle tissues. Lipid myopathies (LM) are rare multi-systemic diseases, which most often are due to genetic defects. Clinically, LM can have acute or chronic clinical presentation. Disease onset can occur in all ages, from early stages of life to late-adult onset, showing with a wide spectrum of clinical symptoms. Muscular involvement can be fluctuant or stable and can manifest as fatigue, exercise intolerance and muscular weakness. Muscular atrophy is rarely present. Acute muscular exacerbations, resulting in rhabdomyolysis crisis are triggered by several factors. Several classifications of lipid myopathies have been proposed, based on clinical involvement, biochemical defect or histopathological findings. Herein, we propose a full revision of all the main clinical entities of lipid metabolism disorders with a muscle involvement, also including some those disorders of fatty acid oxidation (FAO) with muscular symptoms not included among previous lipid myopathies classifications.

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“…Approximately 50 cases of NLSDM have been reported worldwide from a range of various ethnic groups [1, 3–5, 8, 14, 20] including Chinese [10, 12, 21, 22]. However, NLSDM patients are typically described from a few families in case reviews [1, 3, 4, 8, 14, 20] or in small cohorts of patients [4, 5, 16]. The rarity and broad geographical distribution of NLSDM limits a comprehensive understanding and prompt diagnosis of this disease, and the phenotype/genotype correlation remains unclear [3, 4, 15, 20].…”

Section: Introductionmentioning

confidence: 99%

Neutral lipid storage disease with myopathy in China: a large multicentric cohort study

Zhang

Wen

Lü

et al. 2019

Orphanet J Rare Dis

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BackgroundNeutral lipid storage disease with myopathy (NLSDM) is a rare clinical heterogeneous disorder caused by mutations in the patatin-like phospholipase domain-containing 2 (PNPLA2) gene. NLSDM usually presents skeletal myopathy, cardiomyopathy and the multiple organs dysfunction. Around 50 cases of NLSDM have been described worldwide, whereas the comprehensive understanding of this disease are still limited. We therefore recruit NLSDM patients from 10 centers across China, summarize the clinical, muscle imaging, pathological and genetic features, and analyze the genotype-phenotype relationship.ResultsA total of 45 NLSDM patients (18 men and 27 women) were recruited from 40 unrelated families. Thirteen patients were born from consanguineous parents. The phenotypes were classified as asymptomatic hyperCKemia (2/45), pure skeletal myopathy (18/45), pure cardiomyopathy (4/45), and the combination of skeletal myopathy and cardiomyopathy (21/45). Right upper limb weakness was the early and prominent feature in 61.5% of patients. On muscle MRI, the long head of the biceps femoris, semimembranosus and adductor magnus on thighs, the soleus and medial head of the gastrocnemius on lower legs showed the most severe fatty infiltration. Thirty-three families were carrying homozygous mutations, while seven families were carrying compound heterozygous mutations. A total of 23 mutations were identified including 11 (47.8%) point mutations, eight (34.8%) deletions and four (17.4%) insertions. c.757 + 1G > T, c.245G > A and c.187 + 1G > A were the three most frequent mutations. Among four groups of phenotypes, significant differences were shown in disease onset (< 20 years versus ≥20 years old, p = 0.003) and muscle pathology (with rimmed vacuoles versus without rimmed vacuoles, p = 0.001). PNPLA2 mutational type or functional defects did not show great impact on phenotypes.ConclusionWe outline the clinical and genetic spectrum in a large cohort of NLSDM patients. Selective muscle fatty infiltration on posterior compartment of legs are characteristic of NLSDM. Chinese patients present with distinctive and relative hotspot PNPLA2 mutations. The disease onset age and pathological appearance of rimmed vacuoles are proved to be related with the clinical manifestations. The phenotypes are not strongly influenced by genetic defects, suggesting the multiple environmental risk factors in the development of NLSDM.

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Muscle MRI in neutral lipid storage disease (NLSD)

Cited by 17 publications

References 35 publications

Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD

Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD

Lipid Myopathies

Neutral lipid storage disease with myopathy in China: a large multicentric cohort study

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