References
van der Knaap MS, Linnankivi T, Paetau A, Feigenbaum A, Wakusawa K, Haginoya K et al (2007) Hypomyelination with atrophy of the basal ganglia and cerebellum: follow-up and pathology. Neurology 69:166–171
Aquino D, Bizzi A, Grisoli M, Garavaglia B, Bruzzone MG, Nardocci N et al (2009) Age-related iron deposition in the basal ganglia: quantitative analysis in healthy subjects. Radiology 252:165–172
Carrera E, Tononi G (2014) Diaschisis: past, present, future. Brain 137:2408–2422
Hersheson J, Mencacci NE, Davis M, MacDonald N, Trabzuni D, Ryten M et al (2013) Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. Ann Neurol 73:546–553
Hamilton EM, Polder E, Vanderver A, Naidu S, Schiffmann R, Fisher K et al (2014) Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype–phenotype correlation. Brain 137:1921–1930
Kancheva D, Chamova T, Guergueltcheva V, Mitev V, Azmanov DN, Kalaydjieva L et al (2015) Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia. Mov Disord 30:854–858
Carvalho D, Santos S, Martins B, Marques FP (2015) TUBB4A novel mutation reinforces the genotype–phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum. Brain 138:e327
Miyatake S, Osaka H, Shiina M, Sasaki M, Takanashi J, Haginoya K et al (2014) Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies. Neurology 82:2230–2237
Pizzino A, Pierson TM, Guo Y, Helman G, Fortini S, Guerrero K et al (2014) TUBB4A de novo mutations cause isolated hypomyelination. Neurology 83:898–902
Arber C, Li A, Houlden H, Wray S (2015) Insights into molecular mechanisms of disease in Neurodegeneration with Brain Iron Accumulation; unifying theories. Neuropathol Appl Neurobiol. doi:10.1111/nan.12242
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Conflicts of interest
The authors declare that they have no conflict of interest.
Ethical standard
The authors declare that all the required ethical standards have been met.
Electronic supplementary material
Below is the link to the electronic supplementary material.
Rights and permissions
About this article
Cite this article
Sagnelli, A., Magri, S., Farina, L. et al. Early-onset progressive spastic paraplegia caused by a novel TUBB4A mutation: brain MRI and FDG-PET findings. J Neurol 263, 591–593 (2016). https://doi.org/10.1007/s00415-016-8020-8
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00415-016-8020-8