نتایج جستجو برای: spatz syndrome

تعداد نتایج: 622004  

Journal: :Journal of the Belgian Society of Radiology 2015

2011
KV Vinod S Giridharan TK Dutta

Hallervorden-Spatz syndrome is a rare neurodegenerative disease of autosomal recessive inheritance which presents in childhood or early adulthood with dystonia, dysarthria, rigidity and choreoathetosis. Here we present an unusual case of atypical Hallervorden-Spatz syndrome with onset during adolescence and rapid progression in a young female patient who showed the characteristic "eye of the ti...

Journal: :The New England journal of medicine 2003
Susan J Hayflick Shawn K Westaway Barbara Levinson Bing Zhou Monique A Johnson Katherine H L Ching Jane Gitschier

BACKGROUND Hallervorden-Spatz syndrome is an autosomal recessive disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. Many patients with this disease have mutations in the gene encoding pantothenate kinase 2 (PANK2); these patients are said to have pantothenate kinase-associated neurodegeneration. In this study, we compared the clinical and radiographic features...

Journal: :Basic and Clinical Neuroscience Journal 2016

Journal: :Journal of Pediatric Sciences 2016

Journal: :Neuro endocrinology letters 2005
Alena Zumrová Anna Krepelová Martin Kyncl Tatána Maríková Miluse Prosková Renáta Cíbochová Vera Sebronová Vladimír Komárek

Hallervorden-Spatz disease (HSD) was and is known as a rare disorder primarily characterized by progressive extrapyramidal dysfunction and dementia alongside optic nerve atrophy or retinal degeneration and pyramidal signs. The rate of occurence of HSD is thus far unknown. Progress in DNA diagnostics stirred up a nomenclature and from HSD, or, perhaps better put, the Hallervorden-Spatz syndrome,...

Journal: :Archives of Clinical Neuropsychology 2000

Journal: :Journal of neurology, neurosurgery, and psychiatry 2000
D A Grimes A E Lang C Bergeron

Senile chorea is a well recognised but poorly understood clinical entity characterised by a slowly progressive, generalised chorea in elderly people without mental deterioration or a clear underlying cause. The Hallervorden-Spatz syndrome is typically thought of as a paediatric condition with extrapyramidal features and dementia. However, it has been described in adults usually presenting with ...

2016
Sunil Gothwal Swati Nayan

Hallervorden-Spatz syndrome is a disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. The disease is caused by mutations in gene encoding pantothenate kinase 2 (PANK2) and patients have pantothenate kinase-associated neurodegeneration. We present an 8-year-old boy with progressive muscle dystonia, neuroregression, frequent fall and multiple injury marks of diffe...

Journal: :Indian journal of pediatrics 2002
Seema Kapoor Konstanze Hortnagel Siddhartha Gogia Ritu Paul Vishal Malhotra Anjali Prakash

Hallervorden-Spatz syndrome is a rare autosomal recessive hereditary condition characterized by early onset of progressive movement alteration that include dystonia, rigidity and choreoathetosis usually associated with pyramidal signs and mental deterioration. We report two sisters where diagnosis was missed till MRI showed classic imaging findings. Mutation analysis in one, revealed homozygous...

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