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Specialty: Neuroscience
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Total 173 results found since Jan 2013.
Mitochondrial ultrastructural defects in NDUFS3-related disorder
We describe a girl with a history of infantile-onset nonepileptic myoclonus, who developed myopathy at the age of 2 years. Next-generation sequencing revealed compound heterozygous for two variants in the NDUSF3 gene. The electron-microscopic study of the skeletal muscle showed an increase in the number of mitochondria inside the myofibers; mitochondria were variably enlarged with some irregularity and were aligned perpendicular to the myofibrils in a stacked-up manner. This is the first description of mitochondrial ultrastructural abnormality in an individual with NDUFS3-related disorder.
Source: Journal of Pediatric Neurosciences - November 1, 2022 Category: Neuroscience Authors: Debopam Samanta Aravindhan Veerapandiyan Thomas A Burrow Murat Gokden Source Type: research
Congenital myopathies: A clinicopathological study of 10 cases in a tertiary care hospital of North India
Conclusion: This study from India highlights the importance of specific clinical features to look for when suspecting a CM coupled with specific features in histopathology. However, studies with longer duration are needed to find out the true prevalence and various spectra of CMs.
Source: Journal of Pediatric Neurosciences - June 3, 2022 Category: Neuroscience Authors: Siddharth Maheshwari Ishita Pant Kiran Bala Vibhor Paradasani Source Type: research
Advances in the Treatment of Thyroid Eye Disease Associated Extraocular Muscle Myopathy and Optic Neuropathy
AbstractPurpose of ReviewTo review emerging treatments for thyroid eye disease (TED) associated extraocular muscle myopathy and dysthyroid optic neuropathy (DON).Recent FindingsEmerging targeted biologic therapies may alter the disease course in TED. Teprotumumab, a type I insulin-like growth factor receptor inhibitor, is the most recent addition to the treatments available for TED-associated extraocular muscle myopathy causing diplopia. Small studies also suggest a potential therapeutic benefit for DON. Various recent studies have also expanded our knowledge on conventional TED therapies.SummaryThe therapeutic landscape o...
Source: Current Neurology and Neuroscience Reports - May 26, 2022 Category: Neuroscience Source Type: research
Epilepsia Partialis Continua a Clinical Feature of a Missense Variant in the ADCK3 Gene and Poor Response to Therapy
ConclusionsA novel homozygous missense variant [NM_020247.5: c.814G>T; (p.Gly272Cys)] was identified within theADCK3 gene, which is the first mutation in this gene in the Iranian population. Bioinformatics analysis showed this variant is damaging. Based on our patient, clinicians should consider genetic testing earlier to instant diagnosis and satisfactory treatment based on exact etiology to prevent further neurologic sequelae.
Source: Journal of Molecular Neuroscience - March 11, 2022 Category: Neuroscience Source Type: research
A novel frameshift ACTN2 variant causes a rare adult-onset distal myopathy with multi-minicores
CONCLUSION: Our results expanded the phenotypes of ACTN2-related myopathy and provided helpful information to clarify the molecular mechanisms.PMID:34170073 | DOI:10.1111/cns.13697
Source: CNS Neuroscience and Therapeutics - June 25, 2021 Category: Neuroscience Authors: Lei Chen Dian-Fu Chen Hai-Lin Dong Gong-Lu Liu Zhi-Ying Wu Source Type: research
A Novel L1 Linker Mutation in DES Resulted in Total Absence of Protein
AbstractDesminopathies (MIM*601419) are clinically heterogeneous, manifesting with myopathy and/or cardiomyopathy and with intra-sarcoplasmic desmin-positive deposits. They have either an autosomal dominant (AD) or recessive (AR) pattern of inheritance. Desmin is a crucial intermediate filament protein regulating various cellular functions in muscle cells. Here, we report a 13-year-old girl, born of second-degree consanguineous parents, with normal developmental milestones, who presented with dilated cardiomyopathy, respiratory insufficiency and predominant distal upper limb weakness. A striking feature on muscle biopsy wa...
Source: Journal of Molecular Neuroscience - June 9, 2021 Category: Neuroscience Source Type: research
c.3G & gt;A mutation in the < em > CRYAB < /em > gene that causes fatal infantile hypertonic myofibrillar myopathy in the Chinese population
This study's findings help further understand the disease and highlight a founder mutation in the Chinese population.PMID:33834702 | DOI:10.31083/j.jin.2021.01.267
Source: Journal of Integrative Neuroscience - April 9, 2021 Category: Neuroscience Authors: Xin-Guo Lu Uet Yu Chun-Xi Han Jia-Hui Mai Jian-Xiang Liao Yan-Qi Hou Source Type: research
