A series of cases with Huntington-like phenotype and intermediate repeats in HTT.

BACKGROUND: Intermediate Alleles (IAs) are expansions of CAG repeats in the HTT gene between 27 and 35 repeats which pathogenic meaning remains controversial. They are present in the general population but there is an increasing number of cases with Huntington-like phenotype reported. METHODS: We reviewed the medical records of cases in our centre where the neurologist suspected Huntington's disease (HD) as one of the feasible diagnoses and genetic testing showed the number of CAG repeats was in the "intermediate range". We gathered the type of symptoms in all cases and the main neuroimaging findings when available. RESULTS: We found 14 cases, 8 males and 6 females, with average age at onset at 64 years old. Most cases exhibited some type of extrapyramidal symptoms. Cognitive and/or behavioral symptoms were also present in most cases (being depression, anxiety and cognitive impairment the most frequent ones). In one case we found deposits of iron in the basal ganglia in the MRI, and in another case we found diffuse cortical hypometabolism with predominantly frontal bilateral involvement and bilateral focal deficit of both caudate and thalamus in the FDG-PET. CONCLUSION: The clinical and neuroimaging findings of some cases with IA in this series are compatible with the clinical picture of HD but also with several other alternative diagnoses. Therefore we can not establish association between IA and HD. Larger series with more comprehensive diagnostic workout and neuropathological studies are needed to confirm or rule out whether IAs in the HTT gene may cause HD.

Consanguinidad y enfermedad mental grave en los primeros Borbones españoles / Inbreeding and serious mental illness in the first Spanish Bourbons

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Efficacy and Safety of Endovascular Treatment in Acute Tandem Carotid Occlusions: Analysis of a Single-Center Cohort.

INTRODUCTION: Acute ischemic strokes with tandem occlusions, which represent 10-20% of all ischemic strokes, have a particularly poor prognosis. Since emergent treatment of tandem lesions has not been specifically addressed in randomized trials, there is an absence of standardized management. OBJECTIVE: We sought to assess the efficacy and safety of acute endovascular treatment in stroke due to tandem occlusions in our center and compare the results with previous reports. METHODS: From a prospective registry we analyzed data of 99 consecutive patients (males: 77.7%, mean age ± SD: 67.5 ± 9.5 years) with stroke due to tandem occlusions who underwent treatment with emergent carotid stenting and intracranial mechanical thrombectomy. Successful recanalization was defined as a TICI score of 2b-3 and a good functional outcome was defined as a modified Rankin scale score ≤2 at 90 days. Symptomatic intracranial hemorrhage (sICH) was considered when associated with worsening on the National Institutes of Health Stroke Scale (≥4 points). RESULTS: A successful recanalization rate was achieved in 87.8 and 48.5% of the patients had a good functional outcome. sICH and mortality rates were 12.1 and 20.2%, respectively, and 21.2% of the patients received combined treatment with intravenous thrombolysis, which did not affect neither the prognosis nor the recanalization or sICH rates. The time from symptom onset to recanalization and the degree of recanalization were the main factors associated with prognosis and the occurrence of sICH. CONCLUSIONS: Our results suggest that endovascular treatment with emergent carotid stenting and intracranial thrombectomy in patients with acute stroke due to tandem occlusions is an effective and safe procedure.

Infección por SARS-CoV-2 asociada a diplopía y anticuerpos antirreceptor de acetilcolina / SARS-CoV-2 infection associated with diplopia and anti-acetylcholine receptor antibodies

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Upregulated Expression of Heparanase and Heparanase 2 in the Brains of Alzheimer's Disease.

BACKGROUND: Heparan sulfate proteoglycans (HSPGs) promote amyloid-ß peptide and tau fibrillization in Alzheimer's disease (AD) and provide resistance against proteolytic breakdown. Heparanase (HPSE) is the only enzyme that cleaves heparan sulfate (HS). Heparanase 2 (HPSE2) lacks HS-degrading activity, although it is able to interact with HS with high affinity. OBJECTIVE: To analyze HPSE and HPSE2 expressions at different stages of AD. METHODS: RT-PCR was used to analyze transcription levels of both heparanases at different stages of AD, and immunohistochemistry was performed to localize each one in different parts of the brain. RESULTS: Both proteins appeared overexpressed at different stages of AD. Immunohistochemistry indicated that the presence of the heparanases was related to AD pathology, with intracellular deposits found in degenerated neurons. At the extracellular level, HPSE was observed only in neuritic plaques with a fragmented core, while HPSE2 appeared in those with compact cores as well. CONCLUSION: Given the involvement of HSPGs in AD pathology, there would seem to be a relationship between the regulation of heparanase expression, the features of the disease, and a possible therapeutic alternative.

La demencia del rey Fernando VI y el año sin rey / The dementia of King Ferdinand VI and the year with no king

Introducción. Fernando VI fue rey de España entre 1746 y 1759. Su último año de reinado se conoce como el año sin rey. Durante ese año, el monarca sufrió un rápido empeoramiento de sus condiciones mentales. La enfermedad generalmente ha sido atribuida a una condición psiquiátrica primaria, generalmente por un trastorno bipolar. Desarrollo. Se realiza un estudio de investigación en los archivos documentales españoles y bibliotecas en busca de información clínica sobre la enfermedad de Fernando VI. Se realiza una evaluación y discusión clínica de la enfermedad del rey sobre la base de la información obtenida. Conclusiones. El inicio del empeoramiento clínico del último año de Fernando VI empezó tras la muerte de su amada esposa. Los síntomas iniciales descritos pueden ser similares a los de un episodio depresivo mayor, sin embargo, el monarca sufrió un empeoramiento rápidamente progresivo con alteraciones de la personalidad, conductuales, encamamiento, pérdida de control de esfínteres y crisis epilépticas. Los últimos meses de su vida estuvo en un estado de postración con un estado cognitivo compatible con una demencia grave. Por todo ello, aunque es posible que Fernando VI pudiera padecer previamente algún tipo de trastorno psiquiátrico, la enfermedad que le llevó a su muerte precoz sería compatible con lo que hoy conocemos como una demencia rápidamente progresiva (AU)

Introduction. Ferdinand VI was king of Spain from 1746 until 1759. His last year of reign is known as the year without a king. Over this year the king suffered a rapidly progressive deterioration of his mental health status. The clinical condition has been always attributed to a pure psychiatric disorder, generally a bipolar disorder. Development. We review the sources of information in the Spanish archives and libraries, in order to find clinical information about the illness suffered by the king. We made a clinical evaluation and discussion about the disease of the king according to the information that has been obtained and the different diseases that could have caused the illness. Conclusions. Last year clinical deterioration of Ferdinand VI started with the death of his lovely wife. At first, the symptoms were similar to the symptoms of a mayor depressive disorder. Although the king had a rapidly progressive deterioration with severe changes in behavior and conduct, long stay in bed, loss of sphincters control and seizures. During the last months of his life, the king fell into a state of prostration with a marked cognitive impairment. Although it is possible that Ferdinand VI could have had a previous psychiatric disorder, there is enough information to think about a rapidly progressive dementia as the main cause of his clinical worsening and dead (AU)

Epstein-Barr virus and multiple sclerosis. From evidence to therapeutic strategies.

Multiple sclerosis is caused by a complex interaction between genetic predisposition and environmental factors. Epstein-Barr virus (EBV) is an environmental risk factor that is strongly related to multiple sclerosis (MS), since EBV seropositivity is linked to a significant risk of developing MS. EBV may be involved in the pathogenesis of the disease and it is possibly a prerequisite for the development of MS. EBV infection persists in B-cells during the lifetime of the host and can modulate their function. In addition, MS patients might have a deficient capacity to eliminate latent EBV infection in the central nervous system and this would promote the accumulation of infected B cells. Several mechanisms of pathogenesis, including a direct and indirect function of infected B cells, have been postulated in inflammation and neurodegeneration. A relationship between EBV and human endogenous retroviruses in the pathogenesis of MS has also been reported. If EBV is important in the pathogenesis of MS, different therapeutic strategies seem possible for MS treatment.

Síndrome del ocho y medio secundario a un ictus isquémico / Eight and a half syndrome caused by a stroke

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Isolated deafness in multiple sclerosis patients.

Isolated cranial nerve involvement in multiple sclerosis (MS) patients is not frequent. Deafness is considered to be uncommon in MS patients. We have reviewed the sensorineural hearing loss episodes that had been thoroughly investigated in our hospital in the last 5 years. We present three cases of sensorineural hearing loss in patients with MS and compare them with other previously reported and discuss this uncommon symptom. The cases that we present were firstly evaluated by an otolaryngologist. A lesion is seen at the root-entry zone of the eighth cranial nerve in only one case, but no lesions are seen in the other cases. A retrocochlear demyelinating disorder was demonstrated in the two patients in whom brainstem auditory evoked potentials were performed. All patients recovered at least partially their hearing functions.