نتایج جستجو برای: spastic paraplegia 18
تعداد نتایج: 361983 فیلتر نتایج به سال:
A family with pure Strumpell's familial paraplegia is presented. There were 11 afflicted members involving three generations. The mode of inheritance was dominant, the onset in the first decade, and in this family the disease was mild. Literature data from 104 families with 536 members dating from 1880 are tabulated. This report confirms others regarding mode of inheritance, age of onset, distr...
A patient is reported who was on prolonged treatment with dantrolene for spastic paraplegia; he developed a malignant lymphoma which led to his death.
nethertons syndrome consists of the combination of ichthyosis, eczema, and abnormal hair and presents within the first 10 days of life with erythroderma. other reported features are short stature, mental retardation, and seizures. allergy to nuts and fish is also common amongst patients. mutations in the spink5 gene on 5q are reported in patients with nethertons syndrome. to the best of our kno...
Joanna M. Solowska,1 Gerardo Morfini,2 Aditi Falnikar,1 B. Timothy Himes,1,3 Scott T. Brady,2 Dongyang Huang,2 and Peter W. Baas1 1Department of Neurobiology and Anatomy, Drexel University College of Medicine, Philadelphia, Pennsylvania 19129, 2Department of Anatomy and Cell Biology, University of Illinois at Chicago, Chicago, Illinois 60612, and 3Department of Veterans Affairs Medical Center, ...
This is a case of progressive lower limb weakness in a 72-year-old man secondary to chronic bilateral subdural hematoma. This patient presented with a 3 week history of progressive difficulty in walking, with upper motor neuron signs but no sensory deficit. He had no significant risk factors for chronic subdural hematoma. Literature search revealed only one similar documented case of painless b...
BACKGROUND AND PURPOSE Hereditary spastic paraplegia is a clinically and genetically heterogeneous group of rare, inherited disorders causing an upper motor neuron syndrome with (complex) or without (pure) additional neurological symptoms. Mutations in the KIF1A gene have already been associated with recessive and dominant forms of hereditary spastic paraplegia (SPG30) in a few cases. METHODS...
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