Low prevalence of PANK2 mutations in Brazilian patients with early onset generalised dystonia and basal ganglia abnormalities on MRI

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منابع مشابه

Low prevalence of PANK2 mutations in Brazilian patients with early onset generalised dystonia and basal ganglia abnormalities on MRI.

REFERENCES 1. Teo C, Nakaji P, Serisier D, et al. Resolution of trigeminal neuralgia following third ventriculostomy for hydrocephalus associated with Chiari I malformation: case report. Minim Invasive Neurosurg 2005;48:302e5. 2. Caranci G, Mercurio A, Altieri M, et al. Trigeminal neuralgia as the sole manifestation of an Arnold-Chiari type I malformation: case report. Headache 2008;48:625e7. 3...

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Case 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...

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early-onset primary dystonia (dyt1)

dystonia is a movement disorder that causes sustained muscle contractions, repetitive twisting movements, and abnormal postures of the trunk, neck, face, or arms and legs. inherited dystonias can be classified as primary dystonia, dystonia-plus, heredo-degenerative dystonia, and paroxysmal dyskinesias with dystonia. the primary dystonias are those with no other neurologic abnormalities. primary...

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ژورنال

عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry

سال: 2010

ISSN: 0022-3050

DOI: 10.1136/jnnp.2009.200808