Mutations in the human PANK2 gene have been shown to occur in autosomal-recessive pantothenate kinase-associated neurodegeneration, a syndrome originally described by Hallervorden and Spatz. The kinase catalyses the first and rate-limiting step in the biosynthesis of coenzyme A, a key molecule in energy metabolism. We have determined the exon-intron structure of the hPANK2 gene and identified t...

Status Dystonicus (SD) is characterized by generalized muscle contractions in dystonic patients. We report 5 cases of SD, two of which in patients with dystonic cerebral palsy, one in a patient with primary segmental dystonia, one in a patient with Hallervorden-Spatz syndrome and one in a patient with Wilson's disease (WD). Three patients were admitted to an intensive care unit and treated with...

Pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome), the most prevalent form of neurodegeneration with brain iron accumulation, is a rare degenerative brain disease characterised by predominantly extrapyramidal dysfunction resulting from mutations in the PANK2 (pantothenate kinase 2) gene. Using DNA mutation analysis, the authors identified a novel missense m...

blood-brain barrier tested with trypan blue. Acta Neurol Scand 42: 146-152, 1966 26. Lee JC, Olszewski J: Effect of air embolism on permeability of cerebral blood vessels. Neurology (Minneap) 9: 619-625, 1959 27. Nishimoto K, Wolman M, Spatz M, Klatzo I: Pathophysiologic correlations in the blood-brain barrier damage due to air embolism. Adv Neurol 20: 237-244, 1978 28. Hossmann K-A, Lechtape-G...

Patients with Hallervorden-Spatz disease may be confronted by invasive procedure, like gastrostomy and thalamotomy for care of the status of extreme dystonia and rigidity. This rare disorder possesses potential perioperative risks, such as difficult airway management, aspiration pneumonia, hyperpyrexia, dehydration, acute renal failure, and postoperative pulmonary insufficiency. As patients wer...

BACKGROUND Neurodegeneration with brain iron accumulation (NBIA), formerly known as Hallervorden-Spatz syndrome, is a heterogeneous group of disorders with different treatment options. CASE REPORTS In the first case, progressively generalizing dystonic symptoms appeared during childhood. A mutation in the gene encoding pantothenate kinase 2 (PANK2) was found. Brain MRI showed bilateral hypers...