Publications by authors named "C Serrano-Munuera"

Article Synopsis
  • The study focused on the prevalence of ataxia and hereditary spastic paraplegia in Spain, involving 1933 patients from various regions between 2018 and 2019.
  • Results showed that ataxia was more prevalent (70.9%) compared to hereditary spastic paraplegia (29.1%), with overall prevalence rates of 5.48 and 2.24 cases per 100,000 population, respectively.
  • A significant portion of patients (47.6%) lacked a genetic diagnosis, highlighting the need for improved healthcare resources and awareness for these rare disorders.
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Hereditary ataxia (HA) and hereditary spastic paraplegia (HSP) are rare diseases; as such, they are rarely managed in general neurology consultations. We present a set of brief, practical recommendations for the diagnosis and management of these patients, as well as a standardised procedure for comprehensive evaluation of disability. We provide definitions for HA and "HA plus," and "pure" and "complicated" HSP; describe the clinical assessment of these patients, indicating the main complementary tests and clinical scales for physical and psychological assessment of the patients; and summarise the available treatments.

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Objective: To assess the frequency of symptomatic structural lesions and the diagnostic yield of conventional brain MRI in cluster headache (CH).

Background: In contrast to migraine, brain MRI is recommended in patients with CH to exclude potential mimics. The prevalence of symptomatic CH is not known.

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Article Synopsis
  • - The study aimed to assess the prevalence of ataxia and hereditary spastic paraplegia in Spain during 2019, finding 1,809 affected patients with an average age of 53.64 years.
  • - Results showed that 70.9% of patients had ataxia, with prevalence rates of 5.48 cases per 100,000, while hereditary spastic paraplegia had a prevalence of 2.24 cases per 100,000.
  • - The study highlighted that genetic causes were unidentified in nearly half of the patients, emphasizing the need for better healthcare resources and awareness about these neurodegenerative disorders.
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The autosomal dominant spinocerebellar ataxias (SCAs) consist of a highly heterogeneous group of rare movement disorders characterized by progressive cerebellar ataxia variably associated with ophthalmoplegia, pyramidal and extrapyramidal signs, dementia, pigmentary retinopathy, seizures, lower motor neuron signs, or peripheral neuropathy. Over 41 different SCA subtypes have been described evidencing the high clinical and genetic heterogeneity. We previously reported a novel spinocerebellar ataxia type subtype, SCA37, linked to an 11-Mb genomic region on 1p32, in a large Spanish ataxia pedigree characterized by ataxia and a pure cerebellar syndrome distinctively presenting with early-altered vertical eye movements.

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