Posted - June 2018 in Research Highlights
Responsive to levodopa treatment
Parkinsonism that is responsive to treatment with levodopa has previously been identified in certain types of SPG11 HSP. Now for the first time, it has also been identified in the case of SPG7 HSP. SPG11 HSP is associated with impairment in mechanisms of vesicular trafficking and organelle shaping, while SPG7 HSP is associated with impaired mechanisms in mitochondrial function.
We report a 55-year-old woman with a long history of a gait disturbance that was followed by dysarthria and urinary incontinence. She underwent brain MRI, SPECT with TRODAT imaging and whole-exome sequencing, revealing the diagnosis of SPG7. She developed parkinsonism responsive to levodopa, expanding the phenotype of complex SPG7.
SOURCE: Parkinsonism Relat Disord. 2018 Feb;47:88-90. doi: 10.1016/j.parkreldis.2017.12.004. Epub 2017 Dec 11. PMID: 29246844
SPG7 with parkinsonism responsive to levodopa and dopaminergic deficit.
1 Department of Neurology, Universidade Federal de São Paulo, Sao Paulo, SP, Brazil. Electronic address: [email protected]
2 Department of Internal Medicine, Universidade Federal de Juiz de Fora, MG, Brazil.
3 Samaritano Hospital, Division of Nuclear Medicine, Sao Paulo, SP, Brazil.
4 Medimagem, Beneficência Portuguesa, Sao Paulo, SP, Brazil.
5 Department of Neurology, Universidade de Campinas, Campinas, SP, Brazil.
6 Department of Neurology, Universidade Federal de São Paulo, Sao Paulo, SP, Brazil.