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https://www.readbyqxmd.com/read/29468183/charcot-marie-tooth-disease-type-4j-with-complex-central-nervous-system-features
#1
James P Orengo, Pravin Khemani, John W Day, Jun Li, Carly E Siskind
We describe a family with Charcot Marie Tooth disease type 4J presenting with features of Charcot Marie Tooth disease plus parkinsonism and aphemia. Genetic testing found two variants in the FIG4 gene: c.122T>C (p.I41T) - the most common Charcot Marie Tooth disease type 4J variant - and c.1949-10T>G (intronic). Proband fibroblasts showed absent FIG4 protein on western blot, and skipping of exon 18 by RT-PCR. As most patients with Charcot Marie Tooth disease type 4J do not have central nervous system deficits, we postulate the intronic variant and I41T mutation together are causing loss of FIG4 protein and subsequently the central nervous system findings in our family...
February 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/26452688/broca-s-aphemia-the-tortuous-story-of-a-nonaphasic-nonparalytic-disorder-of-speech
#2
Ricardo de Oliveira-Souza, Jorge Moll, Fernanda Tovar-Moll
Broca coined the neologism "aphemia" to describe a syndrome consisting of a loss of the ability to speak without impairment of language and paralysis of the faciolingual territories in actions unrelated to speech, such as protruding the tongue or pursing the lips. Upon examining the brains of patients with aphemia, Broca concluded that the minimum possible lesion responsible for aphemia localized to the posterior left inferior frontal gyrus and lower portion of the middle frontal gyrus. A review of Broca's writings led us to conclude that (a) Broca localized speech, not language, to the left hemisphere, (b) Broca's aphemia is a form of apraxia, (c) Broca's aphemia is not, therefore, a terminological forerunner of aphasia, and (d) Broca was an outspoken equipotentialist concerning the cerebral localization of language...
2016: Journal of the History of the Neurosciences
https://www.readbyqxmd.com/read/26452459/broca-s-facult%C3%A3-du-langage-articul%C3%A3-language-or-praxis
#3
Paul Eling
De Oliveira-Souza, Moll, and Tovar-Moll (this issue) historically reevaluate that Paul Broca's aphemia should be considered as a kind of apraxia rather than aphasia. I argue that such a claim is unwarranted, given the interpretation of the faculty of speech Broca derived from his predecessors, Jean-Baptiste Bouillaud and Franz Joseph Gall, and also with a view on the then generally held opinion that the terms aphémie and aphasie were synonyms. I will discuss evidence that patients such as Leborgne, producing only very few words or syllables, suffer from a global aphasia, affecting all modalities, despite Broca's statement that Leborgne's comprehension was intact...
2016: Journal of the History of the Neurosciences
https://www.readbyqxmd.com/read/23680689/the-spectrum-of-aphasia-subtypes-and-etiology-in-subacute-stroke
#4
Michael Hoffmann, Ren Chen
BACKGROUND: Aphasia is one of the most common stroke syndrome presentations, yet little is known about the spectrum of different subtypes or their stroke mechanisms. Yet, subtypes and etiology are known to influence the prognosis and recovery. AIM: Our aim is to analyze aphasia subtypes and etiology in a large subacute stroke population. METHODS: Consecutive patients from a dedicated cognitive stroke registry were accrued. A validated cognitive screening examination was administered during the first month of stroke presentation, which enabled a diagnosis of 14 different aphasic subtypes...
November 2013: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/23265040/speechless-after-general-anaesthesia-for-caesarean-section
#5
Aravind Narayanan, Qutaiba Amir Tawfic, Rajini Kausalya, Ahmed K Mohammed
'Speechless' patient after general anesthesia may be a real horror for the anaesthetist as well as the patient and his relatives. Whatever the cause "functional or organic" the anaesthetist will be under pressure as his patient is not able to talk. Here we report a 40 years old patient who has no history of medical problems and developed aphemia after general anaesthesia for emergency caesarean section with an uneventful intra-operative course. Clinical examinations and investigations failed to reveal any clear cause and the patient returned her ability to talk and discharged home with normal voice...
June 2012: Middle East Journal of Anesthesiology
https://www.readbyqxmd.com/read/22931711/aphemia-after-infarction-of-the-left-precentral-gyrus-and-premotor-area
#6
Abdullah M Al-Ajmi, Paul E Cooper, Rossen T Rousseff
No abstract text is available yet for this article.
September 2012: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/21743177/aphemia-as-a-presenting-symptom-in-acute-stroke
#7
Pawan K Ojha, Shobha Nandavar, Dawn M Pearson, Andrew M Demchuk
Aphemia is an apraxia of speech characterized by complete articulatory failure in the presence of preserved writing, comprehension and oropharyngeal function and can be the presenting manifestation of acute stroke. The responsible lesion is commonly in the left inferior frontal gyrus or the left motor cortex near the face M1 area. Three patients who developed aphemia due to acute ischemic stroke are described here. All had apraxia of speech due to acute infarct in the left motor cortex near face M1 area. Understanding the underlying speech disorder is crucial in planning the appropriate rehabilitation strategy...
May 2011: Neurology India
https://www.readbyqxmd.com/read/21607754/slowly-progressive-aphemia-a-neuropsychological-conventional-and-functional-mri-study
#8
R Gallassi, L Sambati, R Poda, F Oppi, M Stanzani Maserati, D Cevolani, R Agati, R Lodi
Slowly progressive aphemia (SPA) is a rare focal degenerative disorder characterized by severe dysarthria, frequent orofacial apraxia, dysprosody, phonetic and phonemic errors without global cognitive deterioration for many years. This condition is caused by a degeneration of anterior frontal lobe regions, mainly of the left frontal operculum. We report a case of SPA with a course of 8 years, evaluated by repeated neuropsychological, conventional, and functional MRI examinations. In our case, neuropsychological examinations showed a progressive impairment of speech articulation including dysprosody, phonetic and phonemic errors, and slight writing errors...
December 2011: Neurological Sciences
https://www.readbyqxmd.com/read/21543261/frontal-lobe-nonconvulsive-status-epilepticus-a-case-of-epileptic-stuttering-aphemia-and-aphasia-not-a-sign-of-psychogenic-nonepileptic-seizures
#9
Peter W Kaplan, Ryan Stagg
Stuttering is a repetitive, iterative disfluency of speech, and is usually seen as a developmental problem in childhood. Acquired causes in adults include strokes and medications. When stuttering occurs with seizure-like events, it is usually attributed to psychogenic nonepileptic seizures. We describe an elderly man who experienced personality change and bouts of stuttering, followed by anarthria with preserved writing and then aphasia affecting written and uttered language, and ending with confusion. EEG recordings showed nonconvulsive status epilepticus (NCSE) with focality in the left frontal region followed by bifrontal NCSE...
June 2011: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/20756790/a-case-of-complete-aphemia-of-nine-weeks-duration-sudden-recovery-through-an-accident
#10
C M Allan
No abstract text is available yet for this article.
February 6, 1897: British Medical Journal (1857-1980)
https://www.readbyqxmd.com/read/20753127/remarks-on-functional-aphemia
#11
E H Jacob
No abstract text is available yet for this article.
September 13, 1890: British Medical Journal (1857-1980)
https://www.readbyqxmd.com/read/19938681/-clinical-types-of-ftld-progressive-nonfluent-aphasia-comparative-discussions-on-the-associated-clinical-presentations
#12
COMPARATIVE STUDY
Toshiya Fukui
Progressive nonfluent aphasia (PNFA) is one of the 3 clinical presentations of frontotemporal lobar degeneration (FTLD), the other 2 being frontotemporal dementia and semantic dementia (SD). PNFA and SD, both representing relentlessly progressive language impairment in the realm of FTLD, may share a large part with primary progressive aphasia (PPA). A salient distinction between PPA and PNFA or SD is that PPA includes another clinical type, namely, logopenic/phonemic aphasia (LPA), which is not represented in FTLD...
November 2009: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/19938677/-the-symptomatology-of-frontal-and-temporal-lobe-damages
#13
REVIEW
Tomoyuki Mizuno, Katsuhiko Takeda
In this paper, we review the symptoms associated with damages to the frontal and/or temporal lobes. Similarities and differences between the symptoms observed after a stroke and in frontotemporal lobar degeneration are also discussed. Frontal lobe damages may lead to various apraxic disorders, including limb-kinetic, ideomotor, gait, buccofacial, and ocular motor apraxia. Language dysfunction can arise from perisylvian lesions as well as from extra-perisylvian regions. Broca's aphasia, Wernicke's aphasia, pure word deafness, and aphemia are typical examples of disorders caused by damages to the perisylvian region...
November 2009: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/19892140/chapter-37-alexia-and-agraphia
#14
Victor W Henderson
Studies of alexia and agraphia have played important roles in understanding how complex cognitive functions are related to brain structure and activity. Modern interests in brain-behavior relations began during the second half of the 19th century as an outgrowth of flawed correlative studies by neuroanatomist Franz Gall and subsequent clinical-pathological analyses by Jean-Baptiste Boulliaud on speech and the frontal lobes. In 1856, Louis Victor Marcé drew attention to writing disorders and postulated a cerebral faculty for writing...
2010: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/19892120/chapter-17-cognitive-assessment-in-neurology
#15
REVIEW
Victor W Henderson
Modern interests in cognitive assessment began with Franz Gall's early 19th century theory of mental organology and Paul Broca's reports in the 1860s on patients with focal brain injury and aphemia. These workers spurred interest in assessing delimited mental abilities in relation to discrete cerebral areas. With roots in experimental and educational psychology, the intelligence testing movement added assessment tools that could be applied to neurological patients. Early- to mid-20th-century landmarks were Alfred Binet and Theodore Simon's intelligence scale, Howard Knox's nonverbal performance tests, and the intelligence quotient conceived by Lewis Terman and refined by David Wechsler...
2010: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/18345434/broca-s-aphemia-an-illustrated-account-of-its-clinico-anatomic-validity
#16
Ricardo de Oliveira-Souza, Jorge Moll, Egas M A Caparelli-Dáquer
OBJECTIVE: To present the case of a 54-year-old man with loss of speech, but with preservation of voluntary facio-lingual motility, language and other cognitive abilities (Broca's aphemia). METHOD: Observation of patient oral communicative abilities and general behavior, neuropsychological assessment and cranial computed tomography. RESULTS: Computed tomography showed a hyperdense lesion in the subcortex of the left precentral gyrus corresponding to Brodmann's area 6 and 44...
December 2007: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/17691578/-clinical-treatment-of-apoplectic-aphemia-with-multi-needle-puncture-of-scalp-points-in-combination-with-visual-listening-speech-training
#17
RANDOMIZED CONTROLLED TRIAL
Hui-min Zhang
OBJECTIVE: To observe the therapeutic effect of cluster-needle stimulation of scalp-points combined with rehabilitation training for apoplectic aphemia. METHODS: A total of 56 outpatients were randomized into control (medication, manicol/ beronald, Ca2+ antagonist, citicoline, etc.) group. rehabilitation (Rehab, visual-listening, articulation and speech training) group and acupuncture [Dingqu: 1 cun and 2 cun parallel to the line joining Baihui (GV 20) and Qianding (GV 21) respectively on the bilateral sides...
2007: Zhen Ci Yan Jiu, Acupuncture Research
https://www.readbyqxmd.com/read/17380243/primary-face-motor-area-as-the-motor-representation-of-articulation
#18
Yasuo Terao, Yoshikazu Ugawa, Tomotaka Yamamoto, Yasuhisa Sakurai, Tomohiko Masumoto, Osamu Abe, Yoshitaka Masutani, Shigeki Aoki, Shoji Tsuji
No clinical data have yet been presented to show that a lesion localized to the primary motor area (M1) can cause severe transient impairment of articulation, although a motor representation for articulation has been suggested to exist within M1. Here we describe three cases of patients who developed severe dysarthria, temporarily mimicking speech arrest or aphemia, due to a localized brain lesion near the left face representation of the human primary motor cortex (face-M1). Speech was slow, effortful, lacking normal prosody, and more affected than expected from the degree of facial or tongue palsy...
April 2007: Journal of Neurology
https://www.readbyqxmd.com/read/17056493/the-marc-dax-1770-1837-paul-broca-1824-1880-controversy-over-priority-in-science-left-hemisphere-specificity-for-seat-of-articulate-language-and-for-lesions-that-cause-aphemia
#19
Hugh W Buckingham
One of the most fascinating and frustrating issues in the priority of discovery in science is over just who, for the first time, went on record in the public forum, either orally at a conference or through a published communication, proclaiming that the faculty of articulate human speech was located in the left, not the right, cortical hemisphere. The disputed paper was purportedly written in 1836 by Marc Dax, who died subsequently in 1837. He was a physician in southern France in the city of Montpellier--far from the medical center of Paris...
September 2006: Clinical Linguistics & Phonetics
https://www.readbyqxmd.com/read/15297011/aphemia-like-syndrome-from-a-right-supplementary-motor-area-lesion
#20
Mario F Mendez
Lesions in the left supplementary motor area (SMA) can result in a transcortical motor aphasia with nonfluent spontaneous verbal output and relatively preserved repetition. Reading and writing are proportionally affected. We report a patient with an ischemic lesion in the right SMA. He had impaired articulation and normal repetition plus preserved reading and writing, consistent with an aphemia. This patient supports the dissociation of articulatory fluency and linguistic fluency and suggests that both SMAs affect the initiating of articulatory movements required to produce words whereas the left SMA also affects linguistic aspects of speech...
September 2004: Clinical Neurology and Neurosurgery
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