Neuropsychological sequelae of Hallervorden--Spatz syndrome
نویسندگان
چکیده
منابع مشابه
Hallervorden–Spatz Syndrome with Seizures
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...
متن کاملPantothenate kinase associated neurodegeneration (Hallervorden-Spatz syndrome).
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...
متن کاملGenetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.
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...
متن کاملCase Report: Hallervorden–Spatz Syndrome with Seizures
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 injur...
متن کاملHallervorden-Spatz disease.
We describe fluid attenuated inversion recovery sequence MRI and proton MR spectroscopy appearances of the brain in a 7-year old Saudi boy who presented with the clinical features of Hallervorden-Spatz disease to King Fahad National Guard Hospital, Riyadh, Kingdom of Saudi Arabia.
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Archives of Clinical Neuropsychology
سال: 2000
ISSN: 0887-6177,1873-5843
DOI: 10.1093/arclin/15.8.716