Analysis of deep brain stimulation of the subthalamic nucleus (STN-DBS) in patients with monogenic PRKN and LRRK2 forms of Parkinson's disease.

INTRODUCTION: Deep brain stimulation of the subthalamic nucleus (STN-DBS) is the most common surgical treatment for Parkinson's disease (PD). Patient selection and genetic background can modify the response to this treatment. The objective of this study was to compare both clinical and pharmacologic response of STN-DBS between patients with monogenic forms of PD and non-mutation carriers with idiopathic PD. METHODS: A retrospective analysis among 23 carriers of genetic mutations (8 PRKN and 15 LRRK2) and 74 patients with idiopathic PD was performed. The study included comparisons of Unified Parkinson's Disease Rating Scale (UPDRS) II and III scores, Schwab and England (S&E) scale values, Hoehn & Yahr (H&Y) stage scores, and equivalent doses of levodopa before and after the surgery (at 6 and 12 months) between both groups. RESULTS: The mean age at the time in which STN-DBS was performed was 59.5 ± 8.6. Linear mixed models showed the absence of statistically significant differences between mutation and non-mutation carriers regarding levodopa doses (p = 0.576), UPDRS II (p = 0.956) and III (p = 0.512) scores, and S&E scale scores (0.758). The only difference between the two groups was observed with respect to H&Y stage in OFF medication/ON stimulation status being lower in genetic PD at 6 months after surgery (p = 0.030). CONCLUSION: Clinical and pharmacological benefit of bilateral STN-DBS is similar in PRKN and LRRK2 mutation carriers and patients with idiopathic PD.

[Development of Lennox-Gastaut syndrome in adulthood]. / Evolucion del sindrome de Lennox-Gastaut en la edad adulta.

INTRODUCTION: Lennox-Gastaut syndrome (LGS) is an epileptic encephalopathy that starts in childhood and has an unknown pathophysiological mechanism. Studies on the progress of LGS reveal a poor prognosis. PATIENTS AND METHODS: A retrospective study of 1629 patients with epilepsy was conducted. Patients included in the study were those with an age of onset during childhood, tonic seizures and atypical absences (who might also suffer from other types of seizures); electroencephalogram (EEG) showing generalised slow spike-wave and generalised fast activity; mental retardation and a follow-up time of at least 10 years. RESULTS: The sample consisted of 12 patients, 9 of whom were males. Follow-up time: 20 years. Onset of seizures: 3 years. Cryptogenic LGS: 67%; symptomatic: 33%. Frequency of the seizures at onset: daily (83.3%) or weekly (16.7%). Types of seizures: tonic and atypical absences (100%); drop-attacks (83%); generalised tonic-clonic (75%); myoclonias (41.7%); partial (8.3%) and pseudo-epileptic (8.3%). EEG with slow background activity, generalised slow spike-wave and generalised fast activity: 100%. Fifty percent of the patients had at least one epileptic status. They used an average of 7.5 different antiepileptic drugs. At the end of the follow-up 33% were suffering from seizures on a daily basis; 17% were weekly and 42% monthly. A total of 8.3% were free from seizures. All of them were following combination therapy: 17% in bitherapy and 83% with an average of 3.8 drugs (range: 3-5). A total of 92% suffered from severe or very severe mental retardation. Fifty percent required neuroleptic drugs due to behavioural disorders. CONCLUSIONS: Despite the fact that the diagnosis of LGS is serious, we observed a decrease in the number of seizures after several years of development, although the antiepileptic combination therapy remains constant. The mental retardation and behavioural disorders lead to a poor functional prognosis.

[Rivastigmine in a case of autopsy proved frontotemporal dementia (Pick's disease)]. / Rivastigmina en un caso de demencia frontotemporal, enfermedad de Pick verificada por autopsia.

INTRODUCTION: Cholinesterase inhibitors are useful in the treatment of behavioural and psychological symptoms in Alzheimer's disease. Their effectiveness in frontotemporal dementia has not been proved, since such a claim has only been backed by the publication of one open-label trial in which the behavioural and psychological symptoms of the patients treated with rivastigmine over a 12-month period improved significantly with respect to those belonging to a group that were given a placebo. We report a case of frontotemporal dementia, Pick's disease, which improved with rivastigmine treatment. CASE REPORT: A 61-year-old male who presented a progressive clinical picture of behavioural disorders and executive-cognitive impairment that had begun two years earlier. Magnetic resonance imaging of the head revealed severe frontotemporal atrophy. Neuropsychological Inventory (NPI). Overall score 36/144 (6/12: anxiety, disinhibition and aberrant motor behaviour, 4/12: agitation, irritability and apathy; 3/12: sleep and eating disorders. After three months' treatment with rivastigmine, the overall score on the NPI was 10/144. This improvement remained stable over the months that followed. The patient died eight months later after developing liver cancer with metastasis. The microscopic study of the brain showed tau-positive neuronal inclusions, gliosis and neuronal loss. The inclusions were well-circumscribed Pick bodies, which were present in the frontal and temporal cortices and in the dentate gyrus of the hippocampus. CONCLUSIONS: This case confirms the idea that treatment with cholinesterase inhibitors can be effective in the behavioural and psychological symptoms of frontotemporal dementia.

Rivastigmina en un caso de demencia frontotemporal, enfermedad de Pick verificada por autopsia / Rivastigmine in a case of autopsy proved frontotemporal dementia (pick´s disease)

Introducción. Los inhibidores de la colinesterasa son útiles en el tratamiento de los síntomas conductuales y psicológicos en la enfermedad de Alzheimer. Su eficacia en la demencia frontotemporal no está demostrada, pues sólo la avala la publicación de un estudio abierto en el que los síntomas conductuales y psicológicos de los pacientes tratados con rivastigmina durante 12 meses mejoraron significativamente respecto de los del grupo placebo. Describimos un caso de demencia frontotemporal, enfermedad de Pick, que mejoró con el tratamiento con rivastigmina. Caso clínico. Varón de 61 años de edad que presentaba un cuadro clínico progresivo de alteraciones de conducta y afectación ejecutivocognitiva de dos años de evolución. En la resonancia magnética craneal se observó una atrofia frontotemporal grave. En el inventario neuropsicológico (NPI) alcanzó una puntuación global de 36/144 (6/12: ansiedad, desinhibición y conducta motora aberrante, 4/12: agitación, irritabilidad y apatía; 3/12: alteraciones del sueño y de la conducta alimentaria). Tras tres meses de tratamiento con rivastigmina, la puntuación global en el NPI fue de 10/144. Esta mejoría se mantuvo estable en los siguientes meses. Falleció ocho meses después tras desarrollar un hepatocarcinoma con metástasis. En el estudio microscópico del cerebro se observaron inclusiones neuronales tau positivas, pérdida neuronal y gliosis. Las inclusiones eran cuerpos de Pick, bien circunscritos, presentes en la corteza frontal, temporal y en el giro dentado del hipocampo. Conclusión. Este caso confirma que el tratamiento con inhibidores de la colinesterasa puede ser eficaz en los síntomas conductuales y psicológicos de demencia frontotemporal (AU)

Introduction. Cholinesterase inhibitors are useful in the treatment of behavioural and psychological symptoms in Alzheimer's disease. Their effectiveness in frontotemporal dementia has not been proved, since such a claim has only been backed by the publication of one open-label trial in which the behavioural and psychological symptoms of the patients treated with rivastigmine over a 12-month period improved significantly with respect to those belonging to a group that were given a placebo. We report a case of frontotemporal dementia, Pick’s disease, which improved with rivastigmine treatment. Case report. A 61-year-old male who presented a progressive clinical picture of behavioural disorders and executive-cognitive impairment that had begun two years earlier. Magnetic resonance imaging of the head revealed severe frontotemporal atrophy. Neuropsychological Inventory (NPI). Overall score 36/144 (6/12: anxiety, disinhibition and aberrant motor behaviour, 4/12: agitation, irritability and apathy; 3/12: sleep and eating disorders. After three months’ treatment with rivastigmine, the overall score on the NPI was 10/144. This improvement remained stable over the months that followed. The patient died eight months later after developing liver cancer with metastasis. The microscopic study of the brain showed tau-positive neuronal inclusions, gliosis and neuronal loss. The inclusions were well-circumscribed Pick bodies, which were present in the frontal and temporal cortices and in the dentate gyrus of the hippocampus. Conclusions. This case confirms the idea that treatment with cholinesterase inhibitors can be effective in the behavioural and psychological symptoms of frontotemporal dementia (AU)

[Functional reorganization of language in a case of cortical development disorder with continuous spike and wave during sleep]. / Reorganización funcional del lenguaje en un caso de trastorno del desarrollo cortical con punta onda continua durante el sueño.

INTRODUCTION: Left cerebral hemisphere dominance for language is a well known fact. However, this typical lateralization may be affected when left hemisphere is damaged at an early age. In this case, neuronal plasticity allows language to be totally or partially transferred to another area within the ipsilateral or contralateral hemisphere. CASE REPORT: 21 year old woman. Congenital right hemiparesis. Focal epilepsy and continuous spike and wave during NREM sleep at 4 years old. Magnetic resonance imaging: extensive malformation of cortical development in the left hemisphere. From 7 years old, seizures were controlled and the continuous spike and wave discharges disappeared. TREATMENT: Valproic acid, 500 mg/day. Neuropsychological assessment showed that basic language functions were well preserved, while there were signs of non-dominant hemisphere dysfunction. These paradoxical results, together with the fact that the patient was left-handed, established the possibility of functional reorganization of language to the right hemisphere. A functional magnetic resonance imaging (fMRI) study for language lateralization demonstrated preferential right hemisphere activation on Broca's and Wernicke's areas. CONCLUSIONS: This case shows the brain's potential for functional reorganization, especially if, according to Kennard's principle, the injury is produced at an early age.

Reorganización funcional del lenguaje en un caso de trastorno del desarrollo cortical con punta onda continua durante el sueño / Functional reorganization of language in a case of cortical development disorder with continuous spike and wave during sleep

Introducción. La dominancia del hemisferio cerebral izquierdo para el lenguaje es un hecho bien conocido. Sin embargo, esta lateralización típica puede verse alterada cuando dicho hemisferio izquierdo sufre una lesión significativa a una edad temprana. En ese caso la plasticidad neuronal permite que el lenguaje pueda ser transferido, total o parcialmente, a otra área dentro del mismo hemisferio o al hemisferio contra lateral. Caso clínico. Mujer de 21 años. Hemiparesia derecha congénita. Epilepsia focal con evolución a punta onda continua durante el sueño NREM a los 4 años. Resonancia magnética: trastorno del desarrollo cortical extenso en hemisferio izquierdo. Desde los 7 años control de las crisis y desaparición de la punta onda continua durante el sueño. Sigue tratamiento con ácido valproico 500 mg/día. Un estudio neuropsicológico mostró una buena preservación de las funciones lingüísticas básicas y signos de afectación del hemisferio no dominante. Estos resultados paradójicos, junto con la zurdería de la paciente, plantearon la posibilidad de una reorganización funcional del lenguaje hacia el hemisferio cerebral derecho. Un estudio mediante resonancia magnética funcional del lenguaje mostró una activación preferentemente derecha en áreas de Broca y Wernicke. Conclusiones. Este caso ilustra la potencialidad de reorganización funcional del cerebro, especialmente si, como establece el principio de Kennard, la lesión se produce a una edad temprana

Introduction. Left cerebral hemisphere dominance for language is a well known fact. However, this typical lateralization may be affected when left hemisphere is damaged at an early age. In this case, neuronal plasticity allows language to be totally or partially transferred to another area within the ipsilateral or contralateral hemisphere. Case report. 21 year old woman. Congenital right hemiparesis. Focal epilepsy and continuous spike and wave during NREM sleep at 4 years old. Magnetic resonance imaging: extensive malformation of cortical development in the left hemisphere. From 7 years old, seizures were controlled and the continuous spike and wave discharges disappeared. Treatment: Valproic acid, 500 mg/day. Neuropsychological assessment showed that basic language functions were well preserved, while there were signs of non-dominant hemisphere dysfunction. These paradoxical results, together with the fact that the patient was left-handed, established the possibility of functional reorganization of language to the right hemisphere. A functional magnetic resonance imaging (fMRI) study for language lateralization demonstrated preferential right hemisphere activation on Broca's and Wernicke's areas. Conclusions. This case shows the brain's potential for functional reorganization, especially if, according to Kennard's principle, the injury is produced at an early age

[Neuropsychological implications of Crouzon syndrome: a case report]. / Implicaciones neuropsicológicas del síndrome de Crouzon: estudio de un caso.

INTRODUCTION: Crouzon syndrome (CS) has traditionally been associated with moderated mental retardation. However, very few studies have quantified in these patients the degree of this mental retardation, and even less research has been carried out to evidenciate the typical neuropsychological profile, including affective, cognitive and executive functions. CLINICAL CASE: We present a single case-study of a 16 year-old, right-handed female affected of CS. Neuropsychological functions assessed included attention, concentration, memory, visual perception, language, arithmetic processes, praxis, executive functions, reasoning and general intelligence. Deficient results have been obtained in learning and memory, attention, language, graphic praxis, comprehension of social situations and executive functions (frontal lobes). Nevertheless, the patient kept within normal limits her spatial and temporal orientation, visual perception, visual-spatial and manipulative abilities and arithmetic processes. CONCLUSIONS: Results suggest that the intellectual defect in CS is not general and uniform and that some intellectual abilities are preserved, while others are affected in different degrees. The importance of carrying out a thorough neuropsychological assessment in these cases is emphasized.