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The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia. 2013

Grant Guthrie, and Gerald Pfeffer, and Maura Bailie, and Karen Bradshaw, and Andrew C Browning, and Rita Horvath, and Patrick F Chinnery, and Patrick Yu-Wai-Man

UI MeSH Term Description Entries
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009422 Nervous System Diseases Diseases of the central and peripheral nervous system. This includes disorders of the brain, spinal cord, cranial nerves, peripheral nerves, nerve roots, autonomic nervous system, neuromuscular junction, and muscle. Neurologic Disorders,Nervous System Disorders,Neurological Disorders,Disease, Nervous System,Diseases, Nervous System,Disorder, Nervous System,Disorder, Neurologic,Disorder, Neurological,Disorders, Nervous System,Disorders, Neurologic,Disorders, Neurological,Nervous System Disease,Nervous System Disorder,Neurologic Disorder,Neurological Disorder
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000074181 Spastin An AAA ATPase that binds and severs MICROTUBULES. It specifically recognizes and cuts polyglutamylated microtubules with short polyglutamate tails to promote reorganization of cellular microtubule arrays and the release of microtubules from the CENTROSOME following nucleation. It is critical for the biogenesis and maintenance of complex microtubule arrays in AXONS; SPINDLE APPARATUS; and CILIA. Mutations in the spastin gene (SPAST) are associated with type 4 of HEREDITARY SPASTIC PARAPLEGIA. Spastic Paraplegia 4 Protein
D000251 Adenosine Triphosphatases A group of enzymes which catalyze the hydrolysis of ATP. The hydrolysis reaction is usually coupled with another function such as transporting Ca(2+) across a membrane. These enzymes may be dependent on Ca(2+), Mg(2+), anions, H+, or DNA. ATPases,Adenosinetriphosphatase,ATPase,ATPase, DNA-Dependent,Adenosine Triphosphatase,DNA-Dependent ATPase,DNA-Dependent Adenosinetriphosphatases,ATPase, DNA Dependent,Adenosinetriphosphatases, DNA-Dependent,DNA Dependent ATPase,DNA Dependent Adenosinetriphosphatases,Triphosphatase, Adenosine
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D000368 Aged A person 65 years of age or older. For a person older than 79 years, AGED, 80 AND OVER is available. Elderly
D014786 Vision Disorders Visual impairments limiting one or more of the basic functions of the eye: visual acuity, dark adaptation, color vision, or peripheral vision. These may result from EYE DISEASES; OPTIC NERVE DISEASES; VISUAL PATHWAY diseases; OCCIPITAL LOBE diseases; OCULAR MOTILITY DISORDERS; and other conditions (From Newell, Ophthalmology: Principles and Concepts, 7th ed, p132). Hemeralopia,Macropsia,Micropsia,Day Blindness,Metamorphopsia,Vision Disability,Visual Disorders,Visual Impairment,Blindness, Day,Disabilities, Vision,Disability, Vision,Disorder, Visual,Disorders, Visual,Hemeralopias,Impairment, Visual,Impairments, Visual,Macropsias,Metamorphopsias,Micropsias,Vision Disabilities,Vision Disorder,Visual Disorder,Visual Impairments

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