We describe an exceptional spinocerebellar ataxia type 2 (SCA2) phenotype combining cerebellar ataxia, levodopa-responsive parkinsonism, and motor neuron symptoms. We conclude that motor neuron symptoms and signs may be a striking manifestation in SCA2, masking pre-existing cerebellar and extrapyramidal semeiology.
We have analysed the serial sleep and waking EEGs of 3 patients with Creutzfeldt-Jakob disease (CJD), demonstrated by pathology studies. The presence of periodic complexes (PCs) was a constant finding in all the records, including those made on admission (1-3 months after the onset of symptoms) although at this stage the PCs were not as persistent of… (More)
Mutations in the leucine-rich repat kinase 2 (LRRK2) gene have been shown to cause both autosomal dominant and sporadic Parkinson's disease (PD). The common G2019S mutation shows wide geographical distribution while R1441G has been only reported in Northern Spain. The overall frequency of these mutations remains to be established. To determine the… (More)
Idiopathic CD4 lymphocytopenia (ICL) is a syndrome described in patients with low counts of CD4 cells and no other causes for immunosuppression. A few cases of progressive multifocal leukoencephalopathy (PML) have been described in association with this entity. There is no effective treatment for any of them, and the clinical course and outcome are… (More)
We describe the clinical and neuropathological features in a patient aged 45 years with progressive multifocal leukoencephalopathy with epilepsia partialis continua. The motor cortex and basal ganglia were preserved. Our findings lend support to the notion of isolation of the motor cortex as the cause of this particular type of focal status epilepticus.
Continuous facial myokymia (CFM) is an involuntary undulating, vermicular movement that spreads across facial muscles and is associated with a characteristic electromyographic pattern. It is an infrequent clinical sign that almost always occurs in intrinsic brainstem lesions, particularly in multiple sclerosis (MS). It is usually present for only a few… (More)
We describe a patient with Creutzfeldt-Jakob disease (CJD) of the ataxic and panencephalopathic type. Postmortem examination revealed the characteristic lesions of CJD in the grey matter and profound white matter involvement was seen with immunocytochemical techniques. Ultrastructural white matter lesions were identical to those described in experimentally… (More)
Progressive anarthria is a focal cortical degenerative disorder characterized by a profound, progressive alteration in speech without impairment in other cognitive domains. The first symptoms consist of an alteration in the articulation of speech producing telegraphic speech. The disorder invariably progress towards anarthria by deprogramming of the… (More)
BACKGROUND In the last years different studies have reported an increase of amyotrophic lateral sclerosis (ALS) incidence, highlighting the role of the environment in this disease. This prompted us to review ALS cases diagnosed at our hospital in the last decade and to compare them with a previous ALS series reported in our region 30 years ago. METHODS We… (More)
Pleomorphic xanthoastrocytoma (PXA) is a brain neoplasm included in the astrocytic group, exceptionally manifesting with meningeal dissemination. We described a 27-year-old patient presented with acute bilateral visual loss and papilledema with normal brain computed tomography scan, initially mimicking idiopathic intracranial hypertension (IIH). Brain and… (More)