Results 81 to 90 of about 121,613 (384)

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake, Masao Osaki, Takashi Matsukawa, Miho Osako, Chisen Takeuchi, Hiroyuki Ishiura, Jun Mitsui, Ryo Kurokawa, Harushi Mori, Yuji Takahashi, Jun Goto, Shoji Tsuji, Tatsushi Toda   +12 more
wiley   +1 more source

Insights into spinal muscular atrophy from molecular biomarkers

Neural Regeneration Research
Spinal muscular atrophy is a devastating motor neuron disease characterized by severe cases of fatal muscle weakness. It is one of the most common genetic causes of mortality among infants aged less than 2 years. Biomarker research is currently receiving
Xiaodong Xing, Xinzhu Liu, Xiandeng Li, Mi Li, Xian Wu, Xiaohui Huang, Ajing Xu, Yan Liu, Jian Zhang   +8 more
doaj   +1 more source

Molecular markers of disease severity and response to nusinersen therapy in 5q spinal muscular atrophy (literature review)

Нервно-мышечные болезни, 2023
Currently, there are three drugs in the world for the pathogenetic therapy of spinal muscular atrophy 5q: nusinersen, risdiplam and onasemnogene abeparvovek.
K. D. Popov, T. M. Alekseeva, V. D. Nazarov, A. I. Vlasenko, S. M. Malyshev   +4 more
doaj   +1 more source

Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki, Satoru Noguchi, Hotake Takizawa, Yasushi Oya, Yuji Takahashi, Hirofumi Komaki, Hajime Arahata, Shinichiro Hayashi, Ichizo Nishino   +8 more
wiley   +1 more source

Effect of the COVID-19 Pandemic on Children With SMA Receiving Nusinersen: What Is Missed and What Is Gained?

Frontiers in Neurology, 2021
Nusinersen is the first oligonucleotide-based drug that is approved for the treatment of spinal muscular atrophy. In January 2020, the WHO declared COVID-19 a pandemic and nusinersen-provider centers had to postpone planned infusions for some children ...
Caterina Agosto, Eleonora Salamon, Luca Giacomelli, Simonetta Papa, Francesca Benedetti, Franca Benini   +5 more
doaj   +1 more source

Reduced Muscular Carnosine in Proximal Myotonic Myopathy—A Pilot 1H‐MRS Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Myotonic dystrophy type 2 (proximal myotonic myopathy, PROMM) is a progressive multisystem disorder with muscular symptoms (proximal weakness, pain, myotonia) and systemic manifestations such as diabetes mellitus, cataracts, and cardiac arrhythmias.
Alexander Gussew, Maryam Kargaran, Maik Rothe, Andreas Deistung, Dietrich Stoevesandt, Walter A. Wohlgemuth, David Strube, Thomas Kendzierski, Anna Katharina Kölsch, Maurits Gerhard Abraham Heuschen, Markus Otto, Alexander Mensch   +11 more
wiley   +1 more source

Anaesthetic Management of Spinal Muscular Atrophy For Laparoscopic Cholecystectomy [PDF]

The Indian Anaesthetists' Forum, 2006
We report the anaesthetic management of a female patient with Spinal Muscular Atrophy (SMA) presented for laparoscopic cholecystectomy. In order to avoid prolonged recovery; we chose to use total intravenous anaesthesia (TIVA) with propofol and ...
Dr. E. Argyra / Dr. C. Staikou / Dr. G. Polymeneas / Dr. C. M. Markatou
doaj  

Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive care.
Amin Mehrabian, Peter Auguste, Amy Grove, Anna Brown, Janette Parr, Mubarak Patel, Furqan Butt, Jeremiah Donoghue, Mehdi Yousefi, Jo Parsons   +9 more
wiley   +1 more source

Weight-Loss Cognitive-Behavioural Treatment and Essential Amino Acid Supplementation in a Patient with Spinal Muscular Atrophy and Obesity

Case Reports in Medicine, 2018
Spinal muscular atrophy is a genetic neuromuscular disease characterised by muscle atrophy, hypotonia, weakness, and progressive paralysis. Usually, these patients display increased fat mass deposition and reductions in fat-free mass and resting energy ...
Marwan El Ghoch, Paola Vittoria Bazzani, Simona Calugi, Riccardo Dalle Grave   +3 more
doaj   +1 more source

ALS With and Without Upper Motor Neuron Signs: A Comparative Study Supporting the Gold Coast Criteria

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The Gold Coast criteria permit diagnosis of amyotrophic lateral sclerosis (ALS) even without upper motor neuron (UMN) signs. However, whether ALS patients with UMN signs (ALSwUMN) and those without (ALSwoUMN) share similar characteristics and prognoses remains unclear.
Hee‐Jae Jung, E‐nae Cheong, Jungmin So, Heung‐Won Kang, Yangsean Choi, Eun‐Jae Lee, Hyunjin Kim, Young‐Min Lim   +7 more
wiley   +1 more source