Bilateral striatal necrosis, dystonia and multiple mitochondrial DNA deletions: case study and effect of deep brain stimulation.
Bilateral striatal necrosis (BSN) is relatively rare and has been related to a wide array of causes, including nuclear and mitochondrial DNA mutations. We report the clinical vignette of a patient with a 37 year-history of generalized dystonia secondary to BSN associated with multiple mitochondrial DNA deletions of undefined origin. Globus pallidus interna deep brain stimulation produced sustained benefit, with predominant improvements in disability.
Aniello
Maria Stella
MS
Department of Neurological and Psychiatric Sciences, University of Bari, Bari, Italy.
Martino
Davide
D
Petruzzella
Vittoria
V
Eleopra
Roberto
R
Mancuso
Michelangelo
M
Dell'Aglio
Rosa
R
Cavallo
Michele
M
Siciliano
Gabriele
G
Defazio
Giovanni
G
D000328:Adult; D003342:Corpus Striatum / Q000473:pathology*; D004272:DNA, Mitochondrial / Q000235:genetics*; D046690:Deep Brain Stimulation / Q000379:methods*; D018450:Disease Progression; D004421:Dystonia / Q000150:complications* / Q000628:therapy*; D007839:Functional Laterality / Q000502:physiology; D017353:Gene Deletion; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy*; D009336:Necrosis / Q000150:complications / Q000473:pathology / Q000628:therapy; D016896:Treatment Outcome
D004272:DNA, Mitochondrial