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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.
A clinical, genetic and epidemiological study of hereditary ataxias and paraplegias was conducted within a defined area (Cantabria) in Northern Spain from 1974 to 1986. The series comprised 48 index cases and 65 affected relatives. On prevalence day, 103 patients were alive, giving a prevalence of 20.2 cases per 100,000. There were 24 patients (18 families)… (More)
One hundred and forty-four patients with hereditary motor and sensory neuropathy (HMSN) were selected from within a defined area (Cantabria) in Northern Spain, from 1974 to 1984. The series comprises 49 index cases and 95 affected relatives. The prevalence ratio was 28.2 cases per 100,000. The results of the study indicate that the majority of the cases… (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)
The genetic and clinical features of 46 patients in nine families with "pure" hereditary spastic paraplegia are described. Inheritance was autosomal dominant in seven families and autosomal recessive in two. In dominant kinships, five families corresponded to type I with onset below 35 years, and two to type II with onset over 35 years. In early onset… (More)
Sixty-two patients with motor neuron disease (MND), encompassing amyotrophic lateral sclerosis (ALS), progressive bulbar palsy (PBP) and progressive muscular atrophy (PMA), were selected from within a defined area (Cantabria) in northern Spain, from 1974 to 1985. The annual incidence of MND was 1.01 per 100,000 inhabitants and the prevalence rate was 3.52… (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.
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)
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)
We present the clinical features and radiologic findings of a patient with the so-called occipital condyle syndrome (OCS). This clinical picture is originated by the selective metastasization of one of the condyles of the occipital bone. As it was shown in our case, this syndrome may be the presenting feature of a systemic neoplasm. The occipital condyle… (More)