A demência da doença de Parkinson (DDP) e a demência com corpos de Lewy (DCL) representam a segunda causa mais comum de demência neurodegenerativa em pessoas com mais de 65 anos, ocasionando progressivo declínio cognitivo e comprometimento da qualidade de vida.
Corticobasal syndrome (CBS) is associated with diverse underlying pathologies, including the four-repeat (4R)-tauopathies. The Movement Disorders Society (MDS) criteria for progressive supranuclear palsy (PSP) proposed the novel category “probable 4R-tauopathy” to address the phenotypic overlap between PSP and corticobasal degeneration (CBD).
Mutations in the microtubule-associated protein tau gene (MAPT) are associated with heterogeneous clinical and pathological manifestations, and their pathogenicity is based on two different mechanisms: missense and splicing mutations, leading to aggregates of insoluble filaments of tau.1 This letter describes the phenotype of a patient carrying the rare variant MAPT p.V363I mutation and explores the clinical presentation through multimodal imaging biomarkers.
A 29-year-old, right-handed, otherwise healthy man developed severe lifelong Tourette syndrome (TS) beginning at the age of 6 years. Due to its refractory pattern, he underwent deep brain stimulation (DBS) implantation at the centromedian-parafascicular complex thalamic (Figure) when he was 23 years old.
Progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) are sporadic adult-onset primary tauopathies clinically classified among the atypical parkinsonian syndromes. They are intrinsically related with regard to their clinical features, pathology, biochemistry, and genetic risk factors.
Synkinesis is a subset of motor overflow in which voluntary movements of one part of the body are accompanied by involuntary activation of other, non-mirroring muscles. This disorder has been observed in neurodegenerative diseases such as Parkinson's disease, Creutzfeldt–Jakob disease, and other parkinsonian disorders.
Corticobasal syndrome (CBS) is an atypical parkinsonian syndrome related to multiple underlying pathologies.
We read with great interest the fourth consensus report of the Dementia with Lewy Bodies (DLB) Consortium,1 which proposed new recommendations for DLB diagnosis. Core and supportive clinical features were defined, as well as indicative and supportive diagnostic biomarkers. Probable DLB is diagnosed when at least one core clinical feature is present together with one indicative biomarker.
Atualmente, define-se demência como condição na qual ocorre decréscimo cognitivo comparado a um nível prévio do indivíduo, com comprometimento de suas funções sociais e funcionais. Na avaliação em um paciente com comprometimento cognitivo e com uma possível síndrome demencial, a anamnese clínica e o exame neurológico são de extrema importância, e os exames complementares.