Partial deficit of pantothenate kinase 2 catalytic activity in a case of tremor-predominant neurodegeneration with brain iron accumulation

Keyphrases

• Catalytic Activity 100%
• Neurodegeneration with Brain Iron Accumulation 100%
• Tremor 100%
• PANK2 100%
• Pantothenate Kinase-associated Neurodegeneration 66%
• Late-onset 33%
• Compound Heterozygous mutation 33%
• Slowly Progressive 33%
• Dystonia 33%
• Amino Acid Substitution 33%
• Dysarthria 33%
• Missense 33%
• Atypical Case 33%
• Atypical Presentation 33%
• PANK2 mutation 33%

Biochemistry, Genetics and Molecular Biology

• Pantothenate Kinase 100%
• Enzymatic Activity 100%
• Missense 25%
• Amino Acid Substitution 25%
• PANK2 (Gene) 25%