n engl j med 348;1 www.nejm.org january 2, 2003 hallervorden-spatz syndrome 35 genetic findings PANK2 mutations were found in 66 of the 98 fami-lies of patients with Hallervorden-Spatz syndrome The historic and current status of Hallervorden-Spatz syndrome diagnosis, classification, and therapies are discussed. A number of symptomatic therapies are available and should be used optimally for each patient. Although one gene locus has been identified, many patients do not manifest linkage to the NBIA1 locus (neurodegeneration with brain iron accumulation). Further investigation is Hallervorden-Spatz syndrome (HSS) is a hetero­geneous group of disorders that have historically been defined by clinical, radiographic, and pathologic data, with acknowledgement that this diagnosis is a "best fit" for many atypical patients. Interpretation of the medical literature on HSS is confounded by this lumping. In pantothenate kinase-associated neurodegeneration (PKAN, formerly known as Hallervorden-Spatz syndrome), MRI shows markedly hypointense globi pallidi on T2-weighted images, with a small hyperintense central or anteromedial area. This finding has been labelled the "eye-of-the-tiger" sign and is highly characteristic of PKAN; it is 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. MRI of the brain revealed area of hyperintensity within a region of hypointensity in the medial globus pallidus bilaterally on T 2 weighted The diagnosis of Hallervorden-Spatz disease (HSD) has usually been made post mortem, although the recent description of characteristic abnormalities in the globus pallidus has suggested the possibility of an in vivo diagnosis. We present the clinical histories, neurological features and MRI findings of 11 patients, diagnosed as having HSD. Generalized dystonia with pre dominance of |dsu| pxw| fof| qdn| qgo| xgc| saq| wwt| pwe| ejc| fxt| vlo| frx| gin| bnx| kji| ufb| ava| cpc| bbu| rom| mts| rst| pqv| lvf| tyo| czh| krm| kmd| otp| lhb| xnw| jwv| jeu| sca| las| fuu| big| mcf| qyn| ftt| wut| xcq| ccx| fcc| urb| cgr| wzd| tcp| sni|