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Early-onset neurodegeneration with brain iron accumulation due to PANK2 mutation

✍ Scribed by Daniela Rossi; Elisa De Grandis; Chiara Barzaghi; Monica Mascaretti; Barbara Garavaglia; Elisabetta Zanotto; Giovanni Morana; Roberta Biancheri


Book ID
113499101
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
192 KB
Volume
34
Category
Article
ISSN
0387-7604

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ATP13A2 mutations (PARK9) cause neurodeg
✍ Susanne A. Schneider; Coro Paisan-Ruiz; Niall P. Quinn; Andrew J. Lees; Henry Ho πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 105 KB

## Abstract Kufor Rakeb disease (KRD, PARK9) is an autosomal recessive extrapyramidal‐pyramidal syndrome with generalized brain atrophy due to __ATP13A2__ gene mutations. We report clinical details and investigational results focusing on radiological findings of a genetically‐proven KRD case. Clini