HALLERVORDEN SPATZ DISEASE PDF

The diagnosis is made by a combination of clinical and imaging features, however, genetic testing and full gene sequencing of the PANK2 gene to identify biallelic PANK2 pathogenic variants is considered the gold standard Radiographic features Reflects areas of iron deposition, mainly in the globi pallidi, substantia nigra, and red nuclei. The eye of the tiger sign refers to a central T2 relatively hyperintense spot line within the hypointense globi pallidi due to gliosis and vacuolisation 3. Hugo Spatz,was Director of his division. References 1. Scholz W.

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The diagnosis is made by a combination of clinical and imaging features, however, genetic testing and full gene sequencing of the PANK2 gene to identify biallelic PANK2 pathogenic variants is considered the gold standard Radiographic features Reflects areas of iron deposition, mainly in the globi pallidi, substantia nigra, and red nuclei. The eye of the tiger sign refers to a central T2 relatively hyperintense spot line within the hypointense globi pallidi due to gliosis and vacuolisation 3.

Hugo Spatz,was Director of his division. References 1. Scholz W. Pubmed 2. Hallervorden-Spatz disease: MR and pathologic findings. Guillerman RP. The eye-of-the-tiger sign. Radiology full text - Pubmed citation 4. Hallervorden, H. Spatz: Eigenartige Erkrankung im extrapyramidalen System mit besonderer Beteiligung des Globus pallidus und der Substantia nigra: Ein Beitrag zu den Beziehungen zwischen diesen beiden Zentren. Twenty classic signs in neuroradiology: A pictorial essay.

Indian J Radiol Imaging. Elsevier; Feb 1 [cited Nov 12];4 1 —4. Journal of Experimental and Clinical Medicine citation 7. Pubmed citation 8. Sener RN. Pantothenate kinase-associated neurodegeneration: MR imaging, proton MR spectroscopy, and diffusion MR imaging findings. Radiologic features of Hallervorden Spatz Disease. J Pak Med Assoc. Pubmed citation Dashti M, Chitsaz A. Hallervorden-Spatz disease. Van Bogaert L. Julius Hallervorden Pubmed Hughes JT.

Allison Gregory, Susan J Hayflick. Pantothenate Kinase-Associated Neurodegeneration.

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Pantothenate kinase-associated neurodegeneration

Hallervorden and Spatz first described the disease, in as a form of familial brain degeneration characterized by iron deposition in the brain. Here we present four HSD cases with different clinical pictures. The term neurodegeneration with brain iron accumulation type 1, instead of HSD, eventually came to be used for this condition;[ 1 ] although, the most recent term for the disorder is pantothenate kinase PANK2 - associated neurodegeneration. The classic presentation is in the late part of the first decade or the early part of the second decade, when the individual is between ages 7 years and 15 years. However, the disease has been reported in infancy, and cases with adult onset have been described as well. The course is characterized by progressive dementia, corticospinal signs e.

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Neurodegeneration with Brain Iron Accumulation Information Page

These individuals face significant speech deficits as well as psychiatric and behavioral disturbances. Being a progressive, degenerative nerve illness, PKAN leads to early immobility and often death by early adulthood. Death occurs prematurely due to infections such as pneumonia, and the disease in itself is technically not life limiting. Genetics[ edit ] PKAN is an autosomal recessive disorder. Both the parents of an afflicted child must be heterozygous carriers for the disease and therefore must carry one mutant allele. As it is an autosomal disorder, those heterozygous for the disorder may not display any atypical characteristics that are considered suggestive of the disorder, however there have been reported cases of compound heterozygosity in which heterozygous individuals do develop the classic form of the disease. PANK2 is responsible for coding the protein Pantothenate kinase 2.

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