ALS5/SPG11/ KIAA1840 mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease

@article{Montecchiani2016ALS5SPG11KM,
  title={ALS5/SPG11/ KIAA1840 mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease},
  author={C. Montecchiani and L. Pedace and T. Lo Giudice and Antonella Casella and Marzia Mearini and F. Gaudiello and J. Pedroso and C. Terracciano and C. Caltagirone and R. Massa and P. St George-Hyslop and O. Barsottini and T. Kawarai and A. Orlacchio},
  journal={Brain},
  year={2016},
  volume={139},
  pages={73 - 85}
}
Mutations in the ALS5/SPG11/ KIAA1840 gene cause autosomal recessive hereditary spastic paraplegia or autosomal recessive juvenile amyotrophic lateral sclerosis. Montecchiani et al . show that KIAA1840 mutations can manifest also as recessive Charcot-Marie-Tooth disease. They describe 12 kindreds with 15 different mutations, two of which have not been reported previously. 
Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations
Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype
Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions
Genetics of Amyotrophic Lateral Sclerosis.
Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease
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