Mutations in the ATP13A2 gene have been implicated in various neurodegenerative disorders, including Kufor‐Rakeb syndrome (KRS), neuronal ceroid lipofuscinosis (NCL), hereditary spastic paraplegia (HSP), and amyotrophic lateral sclerosis (ALS). This… Click to show full abstract
Mutations in the ATP13A2 gene have been implicated in various neurodegenerative disorders, including Kufor‐Rakeb syndrome (KRS), neuronal ceroid lipofuscinosis (NCL), hereditary spastic paraplegia (HSP), and amyotrophic lateral sclerosis (ALS). This report presents two Iranian families with ATP13A2 variants exhibiting atypical features of KRS.
Keywords:
neuron involvement;
motor neuron;
involvement two;
two atp13a2;
related families;
atp13a2 related
Journal Title: Movement Disorders Clinical Practice
Year Published: 2025
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Journal Title: Movement Disorders Clinical Practice
Year Published: 2025
Link to full text (if available)
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recommendations!