Disease relevance of Hallervorden-Spatz Syndrome

• These include subacute sclerosing panencephalitis, lead encephalopathy, tuberous sclerosis, Down syndrome, Hallervorden-Spatz disease, and lipofuscinosis [1].
• alpha-Synuclein is one of the major components of intracellular fibrillary aggregates in the brains of a subset of neurodegenerative disorders, including Parkinson's disease, dementia with Lewy bodies, multiple system atrophy, and Hallervorden-Spatz disease, which are referred to as alpha-synucleinopathies [2].
• Finally, patients with Hallervorden-Spatz syndrome, an autosomal recessive, progressive neurodegenerative disorder, have mutations in a novel pantothenate kinase gene (PANK2) [3].
• Dystonia was related to cerebral palsy in three patients and to Hallervorden-Spatz disease in two [4].
• Dystonia in the two patients with Hallervorden-Spatz disease was not improved, although the screening trial was limited by side effects in one patient and by meningitis in the other [4].

High impact information on Hallervorden-Spatz Syndrome

• A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome [5].
• These results suggest that cysteine accumulates locally in the globus pallidus in Hallervorden-Spatz disease as a result of an enzymatic block in the metabolic pathway from cysteine to taurine [6].
• Accumulated cysteine may chelate iron, accounting for the local increase in iron content in Hallervorden-Spatz disease [6].
• Adult onset Hallervorden-Spatz disease with neurofibrillary pathology. A discrete clinicopathological entity [7].
• Mutation analysis was performed in four apparently unrelated Dutch families with pantothenate kinase-associated neurodegeneration, formerly known as Hallervorden-Spatz syndrome [8].

Chemical compound and disease context of Hallervorden-Spatz Syndrome

• Muscle biopsy was performed in two patients with Hallervorden-Spatz disease and increased serum creatine kinase levels [9].
• This report focuses on a young patient with Hallervorden-Spatz disease who presented with C4 to C5 cervical disk extrusion and cord compression because of premature spondylotic changes of the cervical spine [10].
• We conclude that a multidisciplinary team approach and in selected cases, the use of carbidopa-levodopa are valid methods for the rehabilitation of patients with Hallervorden-Spatz Syndrome [11].
• Six of 23 biochemically and morphologically re-examined children got a new and definite diagnosis: 1 myoclonic encephalopathy with ragged red fibres, 2 carbohydrate-deficient glycoprotein syndrome, 1 neuroborreliosis, 1 Hallervorden-Spatz disease and 1 leucodystrophy [12].
• Status dystonicus and Hallervorden-Spatz disease: treatment with intrathecal baclofen and pallidotomy [13].

Gene context of Hallervorden-Spatz Syndrome

• Pantothenate kinase-associated neurodegeneration (Hallervorden-Spatz syndrome) [14].
• HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) is a rare syndrome with many clinical similarities to pantothenate kinase-associated neurodegeneration (PKAN, formerly Hallervorden-Spatz syndrome) [15].
• Bilateral pallidal stimulation is an effective and safe treatment for intractable generalized dystonia in Hallervorden-Spatz syndrome, even if the disability is severe and longstanding [16].
• Optic atrophy as the presenting sign in Hallervorden-Spatz syndrome [17].
• Mutations in the pantothenate kinase 2 gene (PANK2) lead to pantothenate kinase-associated neurodegeneration (PKAN, formerly Hallervorden-Spatz syndrome) [18].

References