scholarly journals Treatable Hyperkinetic Movement Disorders Not to Be Missed

2021 ◽  
Vol 12 ◽  
Author(s):  
Aurélie Méneret ◽  
Béatrice Garcin ◽  
Solène Frismand ◽  
Annie Lannuzel ◽  
Louise-Laure Mariani ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Movement Disorders ◽  
Genetic Diseases ◽  
Autoimmune Disorders ◽  
Diagnostic Process ◽  
Functional Disorders ◽  
Metabolic Disturbances ◽  
Abnormal Involuntary Movements ◽  
The Central Nervous System

Hyperkinetic movement disorders are characterized by the presence of abnormal involuntary movements, comprising most notably dystonia, chorea, myoclonus, and tremor. Possible causes are numerous, including autoimmune disorders, infections of the central nervous system, metabolic disturbances, genetic diseases, drug-related causes and functional disorders, making the diagnostic process difficult for clinicians. Some diagnoses may be delayed without serious consequences, but diagnosis delays may prove detrimental in treatable disorders, ranging from functional disabilities, as in dopa-responsive dystonia, to death, as in Whipple's disease. In this review, we focus on treatable disorders that may present with prominent hyperkinetic movement disorders.

New Advanced Strategies for the Treatment of Lysosomal Diseases Affecting the Central Nervous System

2019 ◽  
Vol 25 (17) ◽  
pp. 1933-1950 ◽  
Author(s):  
Maria R. Gigliobianco ◽  
Piera Di Martino ◽  
Siyuan Deng ◽  
Cristina Casadidio ◽  
Roberta Censi
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Polymeric Nanoparticles ◽  
Genetic Diseases ◽  
Point Of View ◽  
Lysosomal Storage ◽  
Enzyme Replacement ◽  
Lysosomal Diseases ◽  
The Central Nervous System ◽  
Enzyme Delivery

Lysosomal Storage Disorders (LSDs), also known as lysosomal diseases (LDs) are a group of serious genetic diseases characterized by not only the accumulation of non-catabolized compounds in the lysosomes due to the deficiency of specific enzymes which usually eliminate these compounds, but also by trafficking, calcium changes and acidification. LDs mainly affect the central nervous system (CNS), which is difficult to reach for drugs and biological molecules due to the presence of the blood-brain barrier (BBB). While some therapies have proven highly effective in treating peripheral disorders in LD patients, they fail to overcome the BBB. Researchers have developed many strategies to circumvent this problem, for example, by creating carriers for enzyme delivery, which improve the enzyme’s half-life and the overexpression of receptors and transporters in the luminal or abluminal membranes of the BBB. This review aims to successfully examine the strategies developed during the last decade for the treatment of LDs, which mainly affect the CNS. Among the LD treatments, enzyme-replacement therapy (ERT) and gene therapy have proven effective, while nanoparticle, fusion protein, and small molecule-based therapies seem to offer considerable promise to treat the CNS pathology. This work also analyzed the challenges of the study to design new drug delivery systems for the effective treatment of LDs. Polymeric nanoparticles and liposomes are explored from their technological point of view and for the most relevant preclinical studies showing that they are excellent choices to protect active molecules and transport them through the BBB to target specific brain substrates for the treatment of LDs.

Clinical characteristics of autoimmune disorders in the central nervous system associated with myasthenia gravis

2019 ◽  
Vol 266 (11) ◽  
pp. 2743-2751 ◽  
Author(s):  
Kimitoshi Kimura ◽  
Yoichiro Okada ◽  
Chihiro Fujii ◽  
Kenichi Komatsu ◽  
Ryosuke Takahashi ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Myasthenia Gravis ◽  
Clinical Characteristics ◽  
Autoimmune Disorders ◽  
The Central Nervous System

scholarly journals Merosin-positive congenital muscular dystrophy: neuroimaging findings

2007 ◽  
Vol 65 (1) ◽  
pp. 167-169
Author(s):  
André Palma da Cunha Matta ◽  
Márcia de Castro Diniz Gonsalves
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Autosomal Recessive ◽  
Congenital Muscular Dystrophy ◽  
Metabolic Changes ◽  
Resonance Spectroscopy ◽  
Muscle Dystrophy ◽  
Metabolic Disturbances ◽  
The Central Nervous System ◽  
The Brain

Congenital muscle dystrophy (CMD) is a heterogeneous group of autosomal recessive myopathies. It is known that CMD may affect the central nervous system (CNS). Some authors have shown that merosin-negative CMD patients may have encephalic metabolic disturbances. In order to study metabolic changes within the brain, the authors performed a magnetic resonance spectroscopy (MRS) study in a 1-year-old girl with merosin-positive CMD (MP-CMD). MRS of brain demonstrated that NAA/Cr ratio was decreased (1.52), while Cho/Cr ratio was increased (1.78). These findings suggest that metabolic changes in CNS can also be found in patients with MP-CMD.

Leukodystrophies

2017 ◽  
Author(s):  
Ulrike Schrifl ◽  
SakkuBai Naidu ◽  
Ali Fatemi
Keyword(s):  
Central Nervous System ◽  
Palliative Care ◽  
Nervous System ◽  
Genetic Diseases ◽  
Therapeutic Interventions ◽  
Future Research ◽  
Adult Onset ◽  
Combined Use ◽  
The Central Nervous System ◽  
Genetic Techniques

The term “leukodystrophies” refers to a group of genetic diseases characterized by degeneration of white matter in the central nervous system. Depending on the type of leukodystrophy, the phenotype can range from early infantile-onset, rapid, progressive forms to adult-onset slowly progressive variants. The understanding, definition, and classification have been enhanced greatly by the combined use of neuroimaging, especially MRI, and genetic techniques. The window for targeted therapeutic interventions remains brief and management is often limited to symptomatic, supportive, and palliative care, and new approaches for treatment remain a great task for future research.

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