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1.
Stroke Vasc Neurol ; 8(4): 267-275, 2023 08.
Artículo en Inglés | MEDLINE | ID: mdl-36581493

RESUMEN

BACKGROUND AND PURPOSE: Cerebrovascular parenchymal damage is prevalent in ageing brains; however, its vascular aetiology has not been fully elucidated. In addition to the underlying role of sclerotic arterioles, the correlation between collagenised venules has not been clarified. Here, we aimed to investigate the associations between microvascular injuries, including arteriolosclerosis and venular collagenosis, and related parenchymal damages in ageing brains, to investigate the underlying correlations. METHODS: We evaluated arteriolosclerosis and venular collagenosis in 7 regions from 27 autopsy cases with no history of stroke or brain tumour. The correlations between the ratio of arteriolosclerosis, venular collagenosis and the severity of cerebrovascular parenchymal damage, including lacunes, microinfarcts, myelin loss, and parenchymal and perivascular haemosiderin deposits, were assessed. RESULTS: Arteriolosclerosis and venular collagenosis became more evident with age. Arteriolosclerosis was associated with lacunes (p=0.004) and brain parenchymal haemosiderin deposits in the superior frontal cortex (p=0.024) but not with leukoaraiosis severity. Venular collagenosis was not associated with the number of lacunes or haemosiderin, while white matter generally became paler with severe venular collagenosis in the periventricular (ß=-0.430, p=0.028) and deep white matter (ß=-0.437, p=0.025). CONCLUSION: Our findings imply an important role for venular lesions in relation to microvessel-related parenchymal damage which is different from that for arteriolosclerosis. Different underlying mechanisms of both cerebral arterioles and venules require further investigation.


Asunto(s)
Arterioloesclerosis , Humanos , Vénulas/patología , Arterioloesclerosis/diagnóstico , Arterioloesclerosis/patología , Autopsia , Hemosiderina , Encéfalo/patología
2.
BMC Neurol ; 22(1): 401, 2022 Nov 02.
Artículo en Inglés | MEDLINE | ID: mdl-36324076

RESUMEN

BACKGROUND: Neuronal intranuclear inclusion disease (NIID) is a progressive neurodegenerative disease. Patients with NIID may present with heterogeneous clinical symptoms, including episodic encephalopathy, dementia, limb weakness, cerebellar ataxia, and autonomic dysfunction. Among the NIID cases reported in China, patients often have complicated and severe manifestations. Therefore, many clinicians do not consider the disease when the patient presents with relatively minor complaints. CASE PRESENTATION: We present the case of a 39-year-old man showing migraine-aura-like symptoms for the past 3 years. Brain magnetic resonance imaging (MRI) revealed hyperintense signals in the splenium of the corpus callosum and corticomedullary junction on diffusion-weighted imaging (DWI) over time. In addition, brain atrophy that was not concomitant with the patient's age was detected while retrospectively reviewing the patient's imaging results. Genetic analysis and skin biopsy confirmed a diagnosis of NIID. The patient was treated with sibelium, and the symptoms did not recur. DISCUSSION AND CONCLUSIONS: Migraine-aura-like symptoms may be the predominant clinical presentation in young patients with NIID. Persistent high-intensity signals on DWI in the brain and early-onset brain atrophy might be clues for the diagnosis of NIID.


Asunto(s)
Epilepsia , Trastornos Migrañosos , Enfermedades Neurodegenerativas , Masculino , Humanos , Adulto , Enfermedades Neurodegenerativas/diagnóstico , Enfermedades Neurodegenerativas/diagnóstico por imagen , Estudios Retrospectivos , Atrofia/complicaciones , Cefalea/complicaciones , Trastornos Migrañosos/complicaciones , Epilepsia/complicaciones
3.
Chin Med J (Engl) ; 134(2): 178-184, 2020 Oct 26.
Artículo en Inglés | MEDLINE | ID: mdl-33109952

RESUMEN

BACKGROUND: Homozygous or compound heterozygous mutations in high temperature requirement serine peptidase A1 (HTRA1) gene are responsible for cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). Recently, increasing evidence has shown that heterozygous HTRA1 mutations are also associated with cerebral small vessel disease (CSVD) with an autosomal dominant pattern of inheritance. This study was aimed to analyze the genetic and clinical characteristics of HTRA1-related autosomal dominant CSVD. METHODS: We presented three new Chinese cases of familial CSVD with heterozygous HTRA1 mutations and reviewed all clinical case reports and articles on HTRA1-related autosomal dominant CSVD included in PUBMED by the end of March 1, 2020. CARASIL probands with genetic diagnosis reported to date were also reviewed. The genetic and clinical characteristics of HTRA1-related autosomal dominant CSVD were summarized and analyzed by comparing with CARASIL. RESULTS: Forty-four HTRA1-related autosomal dominant CSVD probands and 22 CARASIL probands were included. Compared with typical CARASIL, HTRA1-related autosomal dominant probands has a higher proportion of vascular risk factors (P < 0.001), a later onset age (P < 0.001), and a relatively slower clinical progression. Alopecia and spondylosis can be observed, but less than those in the typical CARASIL. Thirty-five heterozygous mutations in HTRA1 were reported, most of which were missense mutations. Amino acids located close to amino acids 250-300 were most frequently affected, followed by these located near 150∼200. While amino acids 250∼300 were also the most frequently affected region in CARASIL patients, fewer mutations precede the 200th amino acids were detected, especially in the Kazal-type serine protease domain. CONCLUSIONS: HTRA1-related autosomal dominant CSVD is present as a mild phenotype of CARASIL. The trend of regional concentration of mutation sites may be related to the concentration of key sites in these regions which are responsible for pathogenesis of HTRA1-related autosomal dominant CSVD.


Asunto(s)
Enfermedades de los Pequeños Vasos Cerebrales , Serina Peptidasa A1 que Requiere Temperaturas Altas , Leucoencefalopatías , Infarto Cerebral , Enfermedades de los Pequeños Vasos Cerebrales/genética , Heterocigoto , Serina Peptidasa A1 que Requiere Temperaturas Altas/genética , Humanos , Leucoencefalopatías/genética , Mutación/genética
4.
Chin Med Sci J ; 35(3): 207-214, 2020 Sep 30.
Artículo en Inglés | MEDLINE | ID: mdl-32972498

RESUMEN

Objective Linguistic problem is common in Huntington's disease (HD) patients. It has been studied before in native speakers of alphabetic languages, such as English. As a hieroglyphic language, Chinese differs from alphabetic languages in terms of phonology, morphology, semantics and syntax. We aimed to investigate the linguistic characteristics of manifest HD in native speakers of Mandarin. Meanwhile, we expected to explore the linguistic differences associated with cortical or subcortical pathology.Methods Five HD patients and five Alzheimer's disease (AD) patients matched in age, gender, disease course and educational level were enrolled. All the participants were Mandarin native speakers. All finished history inquiry, physical examination, basic test, genetic test and neuropsychological assessment. Language evaluation was performed by Aphasia Battery of Chinese.Results HD patients had a mean disease course of 5.4±2.97 (range, 2-10) years. They showed a linguistic disorder close to transcortical motor aphasia. They exhibited prominent phonological impairment, as well as slight semantic and syntactic abnormality. Tonic errors were found in speech. Character structural errors and substitutions were detected in writing. In comparison, AD patients showed a more severe linguistic impairment, characterized by global aphasia with more semantic errors. Conclusion Mandarin-speaking HD patients have a transcortical motor aphasia-like disturbance with prominent phonological impairment, whereas AD patients have a more severe global aphasia with salient semantic impairment.


Asunto(s)
Enfermedad de Huntington/epidemiología , Lenguaje , Lingüística , Anciano , Enfermedad de Alzheimer/tratamiento farmacológico , Enfermedad de Alzheimer/psicología , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Cognición , Femenino , Humanos , Enfermedad de Huntington/diagnóstico por imagen , Enfermedad de Huntington/tratamiento farmacológico , Enfermedad de Huntington/parasitología , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Escritura
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