نتایج جستجو برای: cmt1a
تعداد نتایج: 183 فیلتر نتایج به سال:
The chemokine monocyte chemoattractant protein-1 (MCP-1/CCL2) has been previously shown to be an important mediator of macrophage-related neural damage in models of two distinct inherited neuropathies, Charcot-Marie-Tooth (CMT) 1A and 1B. In mice deficient in the gap junction protein connexin 32 (Cx32def), an established model for the X-chromosome-linked dominant form of CMT (CMT1X), we investi...
Approximately 1 in 2500 Americans suffer from Charcot-Marie-Tooth (CMT) disease. The underlying disease mechanisms are unique in most forms of CMT, with many point mutations on various genes causing a toxic accumulation of misfolded proteins. Symptoms of the disease often present within the first two decades of life, with CMT1A patients having reduced compound muscle and sensory action potentia...
BACKGROUND The international Inherited Neuropathy Consortium (INC) was created with the goal of obtaining much needed natural history data for patients with Charcot-Marie-Tooth (CMT) disease. We analysed clinical and genetic data from patients in the INC to determine the distribution of CMT subtypes and the clinical impairment associated with them. METHODS We analysed data from 1652 patients ...
diseases of the motor unit are common in children. these diseases are mostly genetically determined. cmt represents a clinically heterogeneous group of disorders caused by aberration of the intimate relationship between the schwann cell sheath and the neural axon, ultimately resulting in axonal death and muscular dennervation. a simple clinical classification of cmt (demyelinating versus axonal...
BACKGROUND High dose oral ascorbic acid substantially improved myelination and locomotor function in a Charcot-Marie-Tooth type 1A mouse model. A phase II study was warranted to investigate whether high dose ascorbic acid also has such a substantial effect on myelination in Charcot-Marie-Tooth type 1A patients and whether this treatment is safe. METHODS Patients below age 25 years were random...
charcot-marie-tooth disease (cmt) is the most common form of inherited peripheral neuropathy. cmt is genetically and clinically heterogenous group of hereditary motor and sensory neuropathies characterized by areflexia, distal sensory loss and progressive weakness of the distal limb muscles. the x-linked cmt (cmtx) is the second most frequent form of charcot-marie-tooth disease. the dominant cm...
Inherited neuropathies, collectively known as Charcot-Marie-Tooth disease (CMT), are a group of genetically and phenotypically heterogeneous peripheral neuropathies associated with mutations or copy number variations in over 80 distinct genes. 1 Named after the three neurologists who first described the condition in 1886, CMT is the most common inherited neuromuscular disease. 2 CMT is a motor ...
according to the well-known classification of dyck, inherited peripheral neuropathies can be categorized as hereditary motor and sensory neuropathies (hmsn) or charcot – marie – tooth (cmt) disease, hereditary motor neuropathies (hmn), and hereditary sensory neuropathies (hsn). cmt is a clinically and genetically heterogeneous group of motor and sensory neuropathies, and is the most common inhe...
نوروپاتی های محیطی از شایع ترین اختلالات نورولوژیکی محسوب می شوند که پیش زمینه ارثی در بیش از 20 درصد آنها به اثبات رسیده است. نوروپاتی های ارثی از حیث کلینیکی و ژنتیکی بسیار هتروژن می باشند. شارکوت ماری توث (cmt) یک بیماری هتروژن در دستگاه عصبی محیطی انسان با شیوع 1:2500 می باشد. اگرچه امروزه پیشرفت های بسیاری در زمینه شناخت ژنتیکی این بیماری حاصل گشته است ولی همچنان طبقه بندی بر اساس خصوصیات ...
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