Two unusual cases of PLA2G6-associated neurodegeneration from India
نویسندگان
چکیده
منابع مشابه
Child Neurology: Two sisters with dystonia and regression: PLA2G6-associated neurodegeneration.
CLINICAL CASE, PART 1 A 19-month-old girl presented for neurologic consultation for delayed walking. She rolled at 6 months, sat unsupported at 8 months, but never walked independently. She babbled only. Her examination was notable for slightly decreased bulk in her legs, mild truncal hypotonia, and decreased deep tendon reflexes. She had difficulty pulling to stand and could only walk with sup...
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BACKGROUND AND PURPOSE Mutations in the PLA2G6 gene are causative of PLA2G6-associated neurodegeneration (PLAN), a spectrum of neurodegenerative conditions including infantile, childhood and adult onset forms. METHODS Seventeen North African patients with a clinical suspicion of infantile-onset PLAN underwent clinical, neurophysiological and neuroimaging examinations, and PLA2G6 sequencing. H...
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ژورنال
عنوان ژورنال: Annals of Indian Academy of Neurology
سال: 2016
ISSN: 0972-2327
DOI: 10.4103/0972-2327.168641