Symptomatic C9ORF72 mutation in non-fluent aphasia without neuroimaging signs of cerebral atrophy: A case study

2021 ◽  
Vol 429 ◽  
pp. 119407
Author(s):  
Lorenzo Fontanelli ◽  
Francesca Bianchi ◽  
Alessandro Galgani ◽  
Daniela Frosini ◽  
Irene Ghicopulos ◽  
...  
Neurology ◽  
2017 ◽  
Vol 89 (7) ◽  
pp. 657-664 ◽  
Author(s):  
David C. Schorling ◽  
Simone Rost ◽  
Dirk J. Lefeber ◽  
Lauren Brady ◽  
Clemens R. Müller ◽  
...  

Objective:To describe the presentation and identify the cause of a new clinical phenotype, characterized by early severe neurodegeneration with myopathic and myasthenic features.Methods:This case study of 5 patients from 3 families includes clinical phenotype, serial MRI, electrophysiologic testing, muscle biopsy, and full autopsy. Genetic workup included whole exome sequencing and segregation analysis of the likely causal mutation.Results:All 5 patients showed severe muscular hypotonia, progressive cerebral atrophy, and therapy-refractory epilepsy. Three patients had congenital contractures. All patients died during their first year of life. In 2 of our patients, electrophysiologic testing showed abnormal decrement, but treatment with pyridostigmine led only to temporary improvement. Causative mutations in ALG14 were identified in all patients. The mutation c.220 G>A (p.Asp74Asn) was homozygous in 2 patients and heterozygous in the other 3 patients. Additional heterozygous mutations were c.422T>G (p.Val141Gly) and c.326G>A (p.Arg109Gln). In all cases, parents were found to be heterozygous carriers. None of the identified variants has been described previously.Conclusions:We report a genetic syndrome combining myasthenic features and severe neurodegeneration with therapy-refractory epilepsy. The underlying cause is a glycosylation defect due to mutations in ALG14. These cases broaden the phenotypic spectrum associated with ALG14 congenital disorders of glycosylation as previously only isolated myasthenia has been described.


Neurocase ◽  
1995 ◽  
Vol 1 (1) ◽  
pp. 39k-54
Author(s):  
L. D. Kartsounis

2018 ◽  
Vol 62 (2) ◽  
pp. 250-259 ◽  
Author(s):  
Noémie Auclair-Ouellet ◽  
Pauline Pythoud ◽  
Monica Koenig-Bruhin ◽  
Marion Fossard

Inflectional morphology difficulties are typically reported in non-fluent aphasia with agrammatism, but a growing number of studies show that they can also be present in fluent aphasia. In agrammatism, morphological difficulties are conceived as the consequence of impaired phonological encoding and would affect regular verbs more than irregular verbs. However, studies show that inflectional morphology difficulties concern both regular and irregular verbs, and that their origin could be more conceptual/semantic in nature. Additionally, studies report more pronounced impairments for the processing of the past tense compared to other tenses. The goal of this study was to characterize the impairment of inflectional morphology in fluent aphasia. RY, a 69-year-old man with chronic fluent aphasia completed a short neuropsychological and language battery and three experimental tasks of inflectional morphology. The tasks assessed the capacity to select the correct inflected form of a verb based on time information, to access the time information included in an inflectional morpheme, and to produce verbs with tense inflection. His performance was compared to a group of five adults without language impairments. Results showed that RY had difficulties selecting the correct inflected form of a verb, accessing time information transmitted by inflectional morphemes, and producing inflected verbs. His difficulties affected both regular and irregular verbs, and verbs in the present, past, and future tenses. The performance also shows the influence of processing limitations over the production and comprehension of inflectional morphology. More studies of inflectional morphology in fluent aphasia are needed to understand the origin of difficulties.


Aphasiology ◽  
2007 ◽  
Vol 21 (5) ◽  
pp. 448-458 ◽  
Author(s):  
Monica Koenig‐Bruhin ◽  
Felix Studer‐Eichenberger

Aphasiology ◽  
1997 ◽  
Vol 11 (3) ◽  
pp. 283-291
Author(s):  
D. L. Sheimo ◽  
L. G. Bardach ◽  
P. Hilfinger

Cortex ◽  
1991 ◽  
Vol 27 (1) ◽  
pp. 121-129 ◽  
Author(s):  
L.D. Kartsounis ◽  
R.F. Crellin ◽  
H. Crewes ◽  
B.K. Toone

2014 ◽  
Vol 38 (01) ◽  
pp. 102-129
Author(s):  
ALBERTO MARTÍN ÁLVAREZ ◽  
EUDALD CORTINA ORERO

AbstractUsing interviews with former militants and previously unpublished documents, this article traces the genesis and internal dynamics of the Ejército Revolucionario del Pueblo (People's Revolutionary Army, ERP) in El Salvador during the early years of its existence (1970–6). This period was marked by the inability of the ERP to maintain internal coherence or any consensus on revolutionary strategy, which led to a series of splits and internal fights over control of the organisation. The evidence marshalled in this case study sheds new light on the origins of the armed Salvadorean Left and thus contributes to a wider understanding of the processes of formation and internal dynamics of armed left-wing groups that emerged from the 1960s onwards in Latin America.


2020 ◽  
Vol 43 ◽  
Author(s):  
Michael Lifshitz ◽  
T. M. Luhrmann

Abstract Culture shapes our basic sensory experience of the world. This is particularly striking in the study of religion and psychosis, where we and others have shown that cultural context determines both the structure and content of hallucination-like events. The cultural shaping of hallucinations may provide a rich case-study for linking cultural learning with emerging prediction-based models of perception.


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