A new MAPT deletion in a case of speech apraxia leading to corticobasal syndrome

Mazzon, Giulia; Menichelli, Alina; Fabretto, Antonella; Cattaruzza, Tatiana; Manganotti, Paolo

doi:10.1080/13554794.2018.1492729

Cited by 7 publications

(10 citation statements)

References 30 publications

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“…Tau's role in LTD appears to depend on its phosphorylation at serine 396 permitting AMPA receptor internalisation [218]. Crucially, a number of studies have reported human genetic cases of FTD [199,294] or intellectual disability [172,232,263] in which tau levels are drastically reduced compared to age-matched controls. Reduced soluble tau has also been reported in normal ageing [187], Parkinson's disease (PD) [145], and AD [137,191] (potentially due to sequestration of tau into NFTs).…”

Section: Tau In Ltp Ltd and Memorymentioning

confidence: 99%

The physiological roles of tau and Aβ: implications for Alzheimer’s disease pathology and therapeutics

2020

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Tau and amyloid beta (Aβ) are the prime suspects for driving pathology in Alzheimer’s disease (AD) and, as such, have become the focus of therapeutic development. Recent research, however, shows that these proteins have been highly conserved throughout evolution and may have crucial, physiological roles. Such functions may be lost during AD progression or be unintentionally disrupted by tau- or Aβ-targeting therapies. Tau has been revealed to be more than a simple stabiliser of microtubules, reported to play a role in a range of biological processes including myelination, glucose metabolism, axonal transport, microtubule dynamics, iron homeostasis, neurogenesis, motor function, learning and memory, neuronal excitability, and DNA protection. Aβ is similarly multifunctional, and is proposed to regulate learning and memory, angiogenesis, neurogenesis, repair leaks in the blood–brain barrier, promote recovery from injury, and act as an antimicrobial peptide and tumour suppressor. This review will discuss potential physiological roles of tau and Aβ, highlighting how changes to these functions may contribute to pathology, as well as the implications for therapeutic development. We propose that a balanced consideration of both the physiological and pathological roles of tau and Aβ will be essential for the design of safe and effective therapeutics.

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Section: Tau In Ltp Ltd and Memorymentioning

confidence: 99%

The physiological roles of tau and Aβ: implications for Alzheimer’s disease pathology and therapeutics

2020

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“…[23][24][25][26][27][28][29][30][31][32][33][34] In two (5.71%) studies, the language impairments were not described in detail. [26][27][28][29][30][31][32][33][34][35] The remaining studies mentioned a variety of different symptoms, including agraphia 15,23,31,[36][37][38][39] speech apraxia, 2,23,36,37,39,40 dysarthria, 36,41 a mixed type of PPA, 16 logopenic variant of PPA (L-PPA), 15,21 anomic aphasia, 3,4,42 transcortical motor aphasia 42 and Broca's aphasia. 42 The tests used for assessment and classification of type of evaluation are also given in Table 2.…”

Section: Resultsmentioning

confidence: 99%

“…4,12,35,40,41 The assessment of methodological quality of the manuscripts is shown in Table 2. Ten studies (28.57%) were classified as "high quality", 2,13,14,16,[20][21][22][23]36,39 23 (65.71%) as "moderate quality", 3,4,15,[24][25][26][27][28][29][30][31][32][33][34][35]37,38,[40][41][42]47,50,51 and two (5.71%) as "low quality". 12,45 GRADE CERQual analysis was carried out for three separate review findings: comprehensive language impairments, impairment in isolated language processing, and absence of language impairment.…”

Section: Resultsmentioning

confidence: 99%

“…Mazzon and colleagues 39 reported the case of a 74-year-old man, who evolved with language impairments, compatible with nf-PPA and apraxic agraphia.…”

Section: Discussionmentioning

confidence: 99%

“…The four studies that included this test were conducted in Italian universities, and used the Italian version. 14,21,30,39 PPT is a semantic access test. It consists of pictures of objects presented in triads, in which the one on the top must be matched to one of two others (the distractor or the target picture), on the basis of some type of association, which varies across the triads.…”

Section: Discussionmentioning

confidence: 99%

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Language in corticobasal syndrome: a systematic review

Almeida

Silagi

Parmera

et al. 2021

Dement. neuropsychol.

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ABSTRACT. Language is commonly impacted in corticobasal syndrome (CBS). However, the profile and type of language assessment in CBS are poorly studied. Objective: To identify language impairments in CBS. Methods: A search was performed in the Medline/PubMed database, according to the PRISMA criteria, using the keywords “corticobasal syndrome” OR “corticobasal degeneration” AND “language”. Articles on CBS covering language assessment that were written in English were included, with no constraints on the publication date. Results: A total of 259 articles were found and 35 were analyzed, consisting of 531 participants. Twenty-eight studies showed heterogeneous language deficits and seven mentioned nonfluent primary progressive aphasia. The most used tests were the Western Aphasia Battery (8 studies) and the Boston Naming Test (8 studies). Conclusion: It was not possible to identify a unique linguistic profile in CBS.

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Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force – An Update

et al. 2022

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In 2016, the Movement Disorder Society Task Force for the Nomenclature of Genetic Movement Disorders presented a new system for naming genetically determined movement disorders and provided a criterion‐based list of confirmed monogenic movement disorders. Since then, a substantial number of novel disease‐causing genes have been described, which warrant classification using this system. In addition, with this update, we further refined the system and propose dissolving the imaging‐based categories of Primary Familial Brain Calcification and Neurodegeneration with Brain Iron Accumulation and reclassifying these genetic conditions according to their predominant phenotype. We also introduce the novel category of Mixed Movement Disorders (MxMD), which includes conditions linked to multiple equally prominent movement disorder phenotypes. In this article, we present updated lists of newly confirmed monogenic causes of movement disorders. We found a total of 89 different newly identified genes that warrant a prefix based on our criteria; 6 genes for parkinsonism, 21 for dystonia, 38 for dominant and recessive ataxia, 5 for chorea, 7 for myoclonus, 13 for spastic paraplegia, 3 for paroxysmal movement disorders, and 6 for mixed movement disorder phenotypes; 10 genes were linked to combined phenotypes and have been assigned two new prefixes. The updated lists represent a resource for clinicians and researchers alike and they have also been published on the website of the Task Force for the Nomenclature of Genetic Movement Disorders on the homepage of the International Parkinson and Movement Disorder Society (https://www.movementdisorders.org/MDS/About/Committees--Other-Groups/MDS-Task-Forces/Task-Force-on-Nomenclature-in-Movement-Disorders.htm). © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson Movement Disorder Society.

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A new MAPT deletion in a case of speech apraxia leading to corticobasal syndrome

Cited by 7 publications

References 30 publications

The physiological roles of tau and Aβ: implications for Alzheimer’s disease pathology and therapeutics

The physiological roles of tau and Aβ: implications for Alzheimer’s disease pathology and therapeutics

Language in corticobasal syndrome: a systematic review

Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force – An Update

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