Deep brain stimulation as treatment for dystonic storm in pantothenate kinase-associated neurodegeneration syndrome: case report of a patient with homozygous C.628 2 T > G mutation of the PANK2 gene

Acta Neurochirurgica

Volumn 157, Issue 9, 2015, Pages 1513-1517

  Tanrıkulu, Bahattin ^a   Özen, Ali ^a   Günal, Dilek Ince ^b   Türkdoğan, Dilşad ^b   Bayraklı, Fatih ^a   Bayri, Yaşar ^a   Dağçınar, Adnan ^a   Şeker, Aşkın ^a  

^a MARMARA UNIVERSITY   (Turkey)

^b MARMARA UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

Author keywords

c.628 2 T > G mutation; Deep brain stimulation; Dystonia; Globus pallidus internus; PANK 2 gene; PKAN

Indexed keywords

BACLOFEN; LEVODOPA; METHYLPHENIDATE; MIDAZOLAM; PANTOTHENATE KINASE 2; TETRABENAZINE; TRIHEXYPHENIDYL; PANTOTHENATE KINASE; PHOSPHOTRANSFERASE;

ACADEMIC ACHIEVEMENT; ARTICLE; ASSESSMENT OF HUMANS; ATAXIA; ATAXIC GAIT; ATTENTION DEFICIT DISORDER; ATTENTION DISTURBANCE; BRAIN DEPTH STIMULATION; BREATHING DISORDER; BREATHING MUSCLE; BURKE FAHNS MARSDEN DYSTONIA RATING SCALE; CASE REPORT; CHILD; CLONUS; DISEASE EXACERBATION; DRUG DOSE REDUCTION; DYSARTHRIA; DYSPHAGIA; FLUOROSCOPY; FUNCTIONAL DISEASE; GENE MUTATION; GENERAL ANESTHESIA; GENERALIZED DYSTONIA; GLOBUS PALLIDUS; HOMOZYGOSITY; HOSPITAL ADMISSION; HUMAN; IMPLANTABLE NEUROSTIMULATOR; INTENSIVE CARE UNIT; MALE; MICROELECTRODE; MUSCLE TONE; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; NEURONAVIGATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOSCOPY; PHYSICAL EXAMINATION; PRIORITY JOURNAL; QUALITY OF LIFE; RATING SCALE; RESPIRATORY TRACT INTUBATION; RETINA PIGMENT DEGENERATION; SCHOOL CHILD; SPEECH DISORDER; STIFF NECK; TENDON REFLEX; TREATMENT RESPONSE; VISUAL ACUITY; GENETICS; MISSENSE MUTATION; PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; SYNDROME;

CHILD; DEEP BRAIN STIMULATION; HUMANS; MALE; MUTATION, MISSENSE; PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); SYNDROME;

EID: 84939256496     PISSN: 00016268     EISSN: 09420940     Source Type: Journal    
DOI: 10.1007/s00701-015-2514-5     Document Type: Article

References (14)

1. Dooling EC, Schoene WC, Richardson EP Jr (1974) Hallervorden-Spatz syndrome. Arch Neurol 30:70–83
2. Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ (2001) A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nat Genet 28:345–349
3. Swaiman KF (2001) Hallervorden-Spatz syndrome. Pediatr Neurol 25:102–108
4. Magarinos-Ascone CM, Regidor I, Martinez-Castrillo JC, Gomez-Galan M, Figueiras-Mendez R (2005) Pallidal stimulation relieves myoclonus-dystonia syndrome. J Neurol Neurosurg Psychiatry 76:989–991
5. Mikati MA, Yehya A, Darwish H, Karam P, Comair Y (2009) Deep brain stimulation as a mode of treatment of early onset pantothenate kinase-associated neurodegeneration. Eur J Paediatr Neurol 13:61–64
6. Sharma MC, Aggarwal N, Bihari M, Goyal V, Gaikwed S, Vaishya S, Sarkar C (2005) Hallervorden spatz disease: MR and pathological findings of a rare case. Neurol India 53:102–104
7. Umemura A, Jaggi JL, Dolinskas CA, Stern MB, Baltuch GH (2004) Pallidal deep brain stimulation for longstanding severe generalized dystonia in Hallervorden-Spatz syndrome. Case report. J Neurosurg 100:706–709
8. van Coller R, Slabbert P, Vaidyanathan J, Schutte C (2014) Successful treatment of disabling paroxysmal nonkinesigenic dyskinesia with deep brain stimulation of the globus pallidus internus. Stereotact Funct Neurosurg 92:388–392
9. Hallervorden J, Spatz H (1922) Eigenartige erkrankung im extrapyramidalen system mit besonderer beteiligung des globus pallidus und der substantia nigra. Z Gesamte Neurol Psychiatr 79:254–302
10. Hayflick SJ, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J (2003) Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med 348:33–40
11. Siegl C, Hamminger P, Jank H, Ahting U, Bader B, Danek A, Gregory A, Hartig M, Hayflick S, Hermann A, Prokisch H, Sammler EM, Yapici Z, Prohaska R, Salzer U (2013) Alterations of red cell membrane properties in neuroacanthocytosis. PLoS ONE 8, e76715
12. Cif L, Gonzalez V, Garcia-Ptacek S, Roujeau T, Gelisse P, Moura de Ribeiro AM, Crespel A, MacPherson L, Coubes P (2014) Atypical PLA2G6-associated neurodegeneration: social communication impairment, dystonia and response to deep brain stimulation. Mov Disord Clin Pract 1:128–131
13. Fasano A, Ricciardi L, Bentivoglio AR, Canavese C, Zorzi G, Petrovic I, Kresojevic N, Kostic VS, Svetel M, Kovacs N, Balas I, Roubertie A, Mishra D, Mariotti P, Temudo T, Nardocci N (2012) Status dystonicus: predictors of outcome and progression patterns of underlying disease. Mov Disord 27:783–788
14. Grandas F, Fernandez-Carballal C, Guzman-de-Villoria J, Ampuero I (2011) Treatment of a dystonic storm with pallidal stimulation in a patient with PANK2 mutation. Mov Disord 26:921–922