Pallidal stimulation in siblings with pantothenate kinase‐associated neurodegeneration: Four‐year follow‐up

Adamovičová, Miriam; Jech, Robert; Urgošík, Dušan; Špačková, Nataša; Křepelová, Anna

doi:10.1002/mds.23349

Cited by 24 publications

(15 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…BFMDRS‐M improvements were generally clinically significant in patients with PKAN dystonia and Lesch‐Nyhan disease, although results are again variable, and did not reach statistical significance. Perhaps more notably were the effects of DBS on self‐mutilating behavior in patients with Lesch‐Nyhan disease, with three patients showing complete remission of self‐mutilating behavior and one patient showing significant improvement postoperatively.…”

Section: Discussionmentioning

confidence: 86%

Deep brain stimulation for pediatric dystonia: a meta‐analysis with individual participant data

Elkaim

Alotaibi

Sigal

et al. 2018

Develop Med Child Neuro

107

View full text Add to dashboard Cite

Aim We performed a meta‐analysis with individual participant data of deep brain stimulation (DBS) for dystonia in children and young people. Method Three databases (PubMed, Embase, and Web of Science) were queried from January 1999 to August 2017 with no language restrictions to identify case studies and cohort studies reporting on pediatric patients (age ≤21y) with dystonia. The primary outcomes were changes in Burke‐Fahn‐Marsden (BFM) or Barry‐Albright Dystonia Scale scores. A mixed‐effects regression was used to identify associations between clinical covariates and outcomes. Results Of 2509 citations reviewed, 72 articles (321 children) were eligible. At last follow‐up (median 12mo, 25th centile=9.0; 75th centile=32.2), 277 (86.3%) patients showed improvement in dystonia, while 66.1 percent showed clinically significant (>20%) BFM Dystonia Rating Scale‐motor improvement. On multivariable hierarchical regression, older age at dystonia onset, inherited dystonia without nervous system pathology and idiopathic dystonia (vs inherited with nervous system pathology or acquired dystonia), and truncal involvement indicated a better outcome (p<0.05). Interpretation The data suggest that DBS is effective and should be considered in selected children with inherited or idiopathic dystonia. What this paper adds Deep brain stimulation is effective in selected children with inherited or idiopathic dystonia.

show abstract

Section: Discussionmentioning

confidence: 86%

Deep brain stimulation for pediatric dystonia: a meta‐analysis with individual participant data

Elkaim

Alotaibi

Sigal

et al. 2018

Develop Med Child Neuro

107

View full text Add to dashboard Cite

show abstract

“…Typically, GPi‐DBS amplitudes ranged from 1.0 to 5.0 V (median, 2.0 V), with a frequency ranging between 120 and 185 Hz (median, 130 Hz). The median programmed pulse width was 140‐145 microseconds, although several groups had program pulse widths of 450 microseconds . Most commonly, a monopolar or double monopolar electrode contact configuration was used.…”

Section: Resultsmentioning

confidence: 99%

Deep brain stimulation for pantothenate kinase‐associated neurodegeneration: A meta‐analysis

et al. 2019

View full text Add to dashboard Cite

Background Pantothenate kinase‐associated neurodegeneration is a rare autosomal‐recessive disorder, characterized by progressive neurodegeneration associated with brain iron accumulation. DBS has been trialed to treat related movement disorders, particularly dystonia. The objective of this study was to determine the outcome and safety of DBS for pantothenate kinase‐associated neurodegeneration. Methods We performed a meta‐analysis using independent participant data (n = 99) from 38 articles. Primary outcome was change in movement and disability scores of the Burke‐Fahn‐Marsden Dystonia Rating Scale 1 year postoperatively. Secondary outcomes were response rate and complications. Results Patients with classic‐type (n = 58) and atypical‐type (n = 15) pantothenate kinase‐associated neurodegeneration were operated on at a median age of 11 and 31 years, respectively (P < 0.001). GPi was primarily targeted (n = 87). Mean dystonia movement score improved 1 year following GPi‐DBS (‐26%; 95% confidence interval, ‐37% to ‐15%), particularly in atypical versus classic cases (‐45% vs ‐16%; P < 0.001). At least 30% improvement was observed in 34% of classic versus 73% of atypical cases (P = 0.04). Higher preoperative score and atypical type predicted larger improvement. GPi‐DBS improved dystonia disability score in atypical (‐31%; 95% confidence interval, ‐49% to ‐13%) but not classic (‐5%; 95% confidence interval, ‐17% to 8%) cases. Prevalence of surgical infections (6%) and hardware failure (7%) was similar to other dystonia etiologies. Two patients died within 3 months. There was insufficient data to describe outcome > 1 year following GPi‐DBS or with other DBS targets. Overall, small sample sizes limited generalizability. Conclusions This meta‐analysis provides level 4 evidence that GPi‐DBS for pantothenate kinase‐associated neurodegeneration may improve dystonia movement scores in classic type and atypical type and disability scores in atypical type 1 year postoperatively. © 2019 International Parkinson and Movement Disorder Society

show abstract

“…Some have recommended to operate on patients at an early stage in order to prevent fixed skeletal deformities and improve quality of life [87]. Others have suggested that a beneficial effect can be expected in patients with mobile and axial dystonia rather than fixed and oromandibular dystonia [88]. In patients with pharmacoresistant status dystonicus, pallidotomy or DBS GPi may be a life-saving intervention [52,82,89].…”

Section: Nbia Type 1 - Pkanmentioning

confidence: 99%

Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA)

Schneider¹,

Dušek²,

Hardy³

et al. 2013

Current Neuropharmacology

104

View full text Add to dashboard Cite

Our understanding of the syndromes of Neurodegeneration with Brain Iron Accumulation (NBIA) continues to grow considerably. In addition to the core syndromes of pantothenate kinase-associated neurodegeneration (PKAN, NBIA1) and PLA2G6-associated neurodegeneration (PLAN, NBIA2), several other genetic causes have been identified (including FA2H, C19orf12, ATP13A2, CP and FTL). In parallel, the clinical and pathological spectrum has broadened and new age-dependent presentations are being described. There is also growing recognition of overlap between the different NBIA disorders and other diseases including spastic paraplegias, leukodystrophies and neuronal ceroid lipofuscinosis which makes a diagnosis solely based on clinical findings challenging. Autopsy examination of genetically-confirmed cases demonstrates Lewy bodies, neurofibrillary tangles, and other hallmarks of apparently distinct neurodegenerative disorders such as Parkinson’s disease (PD) and Alzheimer’s disease. Until we disentangle the various NBIA genes and their related pathways and move towards pathogenesis-targeted therapies, the treatment remains symptomatic. Our aim here is to provide an overview of historical developments of research into iron metabolism and its relevance in neurodegenerative disorders. We then focus on clinical features and investigational findings in NBIA and summarize therapeutic results reviewing reports of iron chelation therapy and deep brain stimulation. We also discuss genetic and molecular underpinnings of the NBIA syndromes.

show abstract

Pallidal stimulation in siblings with pantothenate kinase‐associated neurodegeneration: Four‐year follow‐up

Cited by 24 publications

References 14 publications

Deep brain stimulation for pediatric dystonia: a meta‐analysis with individual participant data

Deep brain stimulation for pediatric dystonia: a meta‐analysis with individual participant data

Deep brain stimulation for pantothenate kinase‐associated neurodegeneration: A meta‐analysis

Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA)

Contact Info

Product

Resources

About