RESUMO
Deep brain stimulation (DBS) represents an established treatment option in a growing number of movement disorders. Recent case reports suggest beneficial effect of globus pallidus internus (GPi)-DBS in selected patients suffering from Huntington's disease with marked disabling chorea. We present a 41-year-old man with genetically confirmed HD following quadruple GPi- and subthalamic nucleus (STN)-DBS. Motor function was assessed by Abnormal Involuntary Movement Scale (AIMS) and by Unified Huntington Disease Rating Scale (UHDRS) presurgery and postsurgery for up to 4 years. Furthermore, cognitive, neuropsychiatric state and quality of life (QoL) including life satisfaction (QLS) were annually evaluated. Chorea assessed by AIMS and UHDRS subscores improved by 52 and 55 %, 45 and 60 %, 35 and 45 % and 55-66 % at 1-4 years, respectively, compared to presurgical state following GPi-STN-DBS. During these time periods bradykinesia did not increase following separate STN- and combined GPi-STN-DBS compared to presurgical state. Mood, QoL and QLS were ameliorated. However, dysexecutive symptoms increased at 4 years postsurgery. The present case report suggests that bilateral GPi- and STN-DBS may represent a new treatment avenue in selected HD patients. Clinically, GPi-DBS attenuated chorea and was associated with a larger effect-adverse effect window compared to STN-DBS. However, GPi-DBS-induced bradykinesia may emerge as one main limitation of GPi-DBS in HD. Thus, quadruple GPi-STN-DBS may be indicated, if separate GPi-DBS does not result in sufficient control of motor symptoms. Future controlled studies need to confirm if the present anecdotal observation of additive beneficial effects of GPi- and STN-DBS in a HD patient with severe generalized chorea and relatively intact cognitive and affective functions indeed represents a new therapeutic option.
Assuntos
Estimulação Encefálica Profunda/métodos , Globo Pálido/fisiopatologia , Doença de Huntington/fisiopatologia , Doença de Huntington/terapia , Núcleo Subtalâmico/fisiopatologia , Adulto , Estimulação Encefálica Profunda/efeitos adversos , Globo Pálido/patologia , Humanos , Doença de Huntington/patologia , Doença de Huntington/psicologia , Imageamento por Ressonância Magnética , Masculino , Atividade Motora/fisiologia , Núcleo Subtalâmico/patologia , Resultado do TratamentoRESUMO
We report on a patient with tetraspasticity due to perinatal cerebral palsy requiring total hip joint endoprosthesis because of hip dysplasia. In order to minimize the risk of postoperative luxation Botulinum Toxin A was injected preoperatively into hip flexor and adductor muscles guided by CT-fluoroscopy. Outcome measures included muscle tone, limb position and self-reported pain relief. Seven days post injections the tone of the right hip flexor and adductor muscles improved from three to one points on the five-point Modified Ashworth Scale (MAS), the spastic joint position improved from 45° to 20° in flexion and from 20° to 10° in adduction, and the patient was free of pain. Ten days after injection of Botulinum Toxin operation of total hip joint arthroplasty was performed without complication. Improvement of spasticity sustained for another eight weeks. Subsequent Botulinum Toxin A injection three months post surgery resulted in identical results. This case demonstrates a new preoperative indication for Botulinum Toxin A in patients with an increased muscle tone at the hip who have to undergo total hip joint endoprosthesis to reduce the risk of postoperative luxation.
Assuntos
Toxinas Botulínicas Tipo A/administração & dosagem , Espasticidade Muscular/tratamento farmacológico , Fármacos Neuromusculares/administração & dosagem , Cuidados Pré-Operatórios/métodos , Artroplastia de Quadril/métodos , Paralisia Cerebral/complicações , Humanos , Masculino , Pessoa de Meia-Idade , Espasticidade Muscular/etiologia , Espasticidade Muscular/cirurgiaAssuntos
Distonia/epidemiologia , Distonia/genética , Chaperonas Moleculares/genética , Polimorfismo de Nucleotídeo Único/genética , População Branca/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Ácido Aspártico/genética , Criança , Predisposição Genética para Doença/epidemiologia , Histidina/genética , Humanos , Pessoa de Meia-IdadeRESUMO
We investigated the role of nitric oxide (NO) in the vascular response to high extraluminal K(+)-concentrations in the in vitro model of isolated rat middle cerebral arteries (MCA). Under control conditions, rat MCA dilated at 20, 30, 40 and 60 mM K(+). At 80 mM K(+), a slight vasoconstriction occurred. The unspecific NO synthase (NOS)-inhibitor L(omega)-nitro-L-arginine (L-NNA) increased the resting tone at 3 mM K(+) by 31+/-5% (P<0.01). While the vasodilatative effect of 20 mM K(+) was unaffected by L-NNA, NOS-inhibition resulted in vasoconstriction at > or = 40 mM K(+) (P<0.01). In presence of L-NNA, the basal vessel diameter was restored by either the NO-donor S-nitroso-N-acetylpenicillamine (SNAP) or the cell-permeable guanosine-3',5'-cyclic monophosphate (cGMP) analogue 8-Br-cGMP. Co-application of L-NNA with either SNAP or 8-Br-cGMP resulted in partial restitution of the vasodilatative effect of 40 mM K(+), respectively. In presence of the soluble guanylyl cyclase inhibitor 1 H-[l,2,4]oxadiazolo[4,3-a]quinoxalin-1-one (ODQ), the vascular response to 40 mM K(+) was abolished. Our findings together with findings from the literature indicate a modulator role of NO at K(+) > or = 40 mM K(+), involving a cGMP-dependent mechanism.