The Experts below are selected from a list of 300 Experts worldwide ranked by ideXlab platform
Kevin Talbot - One of the best experts on this subject based on the ideXlab platform.
-
Sweet food preference in amyotrophic lateral sclerosis.
Practical neurology, 2017Co-Authors: Martin R. Turner, Kevin TalbotAbstract:An elderly female developed Anarthria with prominent emotionality over an 18-month period before specialist neurological assessment. Although tongue electromyography was normal, her corticobulbar signs were consistent with amyotrophic lateral sclerosis (ALS), a pattern that, in the absence of functional impairment outside of speech and swallowing, is appropriately termed progressive bulbar palsy. Such patients, often elderly females, may remain ambulant and independent for many months, sometimes years, despite typically rapid Anarthria.1 Electromyography may be insensitive to denervation, even when genioglossus is sampled, and this can contribute to diagnostic delay …
-
The diagnostic pathway and prognosis in bulbar-onset amyotrophic lateral sclerosis.
Journal of the neurological sciences, 2010Co-Authors: Martin R. Turner, Jakub Scaber, John A Goodfellow, Melanie E Lord, Rachael Marsden, Kevin TalbotAbstract:Despite the inevitability of disease progression in amyotrophic lateral sclerosis, there is a high degree of prognostic heterogeneity in all subtypes. Some bulbar-onset (BO) patients may develop rapid Anarthria yet remain ambulant for a prolonged period, whereas others progress rapidly, with early generalisation of motor weakness to the limbs and respiratory muscles. Diagnostic delay is a common occurrence in ALS, and many BO patients report having attended other specialist clinics prior to diagnosis. A retrospective descriptive study of BO ALS patients seen in a tertiary clinic over a six year period. Forty-nine BO ALS patients were studied. Median survival from symptom onset was 27 months (range 6-84). 63% of subjects were female and the mean age at symptom onset was 68 years. Half had been referred to another speciality prior to diagnosis, either otolaryngology or stroke clinics, but this did not influence diagnostic latency or survival. Emotionality was reported in 45% of patients. Neurophysiological assessment was performed in 80%, brain imaging recorded in 69%, and antibody testing for myasthenia gravis in 22%. The median time to symptomatic progression beyond the bulbar region was approximately 1 year, with equal proportions progressing to the upper or lower limbs. The median interval from onset to Anarthria was 18 months, and to loss of ambulation 22 months. There was a close correlation between the two (r(2)=0.6) and median survival from loss of ambulation was only 3 months. Gastrostomy was carried out in 78% of patients with a median time of 13 months from symptom onset, and 3 months from diagnosis. Median survival from gastrostomy was 10 months. Survival in bulbar-onset ALS is highly variable. Half of the patients were referred to an inappropriate clinic prior to diagnosis. The time interval to the development of Anarthria predicted the timing of subsequent loss of ambulation accurately from which survival may then be only a few months. Copyright 2010 Elsevier B.V. All rights reserved.
-
The diagnostic pathway and prognosis in bulbar-onset amyotrophic lateral sclerosis.
Journal of the Neurological Sciences, 2010Co-Authors: Martin R. Turner, Jakub Scaber, John A Goodfellow, Melanie E Lord, Rachael Marsden, Kevin TalbotAbstract:Abstract Background Despite the inevitability of disease progression in amyotrophic lateral sclerosis, there is a high degree of prognostic heterogeneity in all subtypes. Some bulbar-onset (BO) patients may develop rapid Anarthria yet remain ambulant for a prolonged period, whereas others progress rapidly, with early generalisation of motor weakness to the limbs and respiratory muscles. Diagnostic delay is a common occurrence in ALS, and many BO patients report having attended other specialist clinics prior to diagnosis. Methods A retrospective descriptive study of BO ALS patients seen in a tertiary clinic over a six year period. Results Forty-nine BO ALS patients were studied. Median survival from symptom onset was 27months (range 6–84). 63% of subjects were female and the mean age at symptom onset was 68years. Half had been referred to another speciality prior to diagnosis, either otolaryngology or stroke clinics, but this did not influence diagnostic latency or survival. Emotionality was reported in 45% of patients. Neurophysiological assessment was performed in 80%, brain imaging recorded in 69%, and antibody testing for myasthenia gravis in 22%. The median time to symptomatic progression beyond the bulbar region was approximately 1year, with equal proportions progressing to the upper or lower limbs. The median interval from onset to Anarthria was 18months, and to loss of ambulation 22months. There was a close correlation between the two ( r 2 =0.6) and median survival from loss of ambulation was only 3months. Gastrostomy was carried out in 78% of patients with a median time of 13months from symptom onset, and 3months from diagnosis. Median survival from gastrostomy was 10months. Conclusions Survival in bulbar-onset ALS is highly variable. Half of the patients were referred to an inappropriate clinic prior to diagnosis. The time interval to the development of Anarthria predicted the timing of subsequent loss of ambulation accurately from which survival may then be only a few months.
Christos Ganos - One of the best experts on this subject based on the ideXlab platform.
-
the clinical syndrome of dystonia with Anarthria aphonia
Parkinsonism & Related Disorders, 2016Co-Authors: Christos Ganos, Belinda H A Crowe, Maria Stamelou, Nikola Kresojević, Milica Ječmenica Lukić, Jose Bras, Rita Guerreiro, Funmilola Taiwo, Bettina BalintAbstract:Abstract Objectives In dystonia the formulation of a clinical syndrome is paramount to refine the list of etiologies. We here describe the rare association of dystonia with Anarthria/aphonia, by examining a large cohort of patients, to provide a narrow field of underlying conditions and a practical algorithmic approach to reach diagnosis. Methods We retrospectively reviewed cases, which were evaluated between 2005 and 2014, to identify those with dystonia combined with marked Anarthria and/or aphonia. We reviewed demographic information, clinical characteristics, as well as clinico-genetic investigations. We evaluated video material where available. Results From 860 cases with dystonia as the predominant motor feature, we identified 32 cases (3.7%) with Anarthria/aphonia. Age at neurological symptom onset was variable, but the majority of cases (n = 20) developed symptoms within their first eight years of life. A conclusive diagnosis was reached in 27 cases. Monoamine neurotransmitter disorders, neurodegeneration with brain iron accumulation syndromes, hypomyelination with atrophy of the basal ganglia and cerebellum, and syndromes with inborn errors of metabolism were the most common diagnoses. Brain MRI was crucial for reaching a diagnosis by examining the structural integrity of the basal ganglia, the cerebral cortex, brain myelination and whether there was abnormal metal deposition. Pathophysiological mechanisms underlying Anarthria/aphonia included dystonia, corticobulbar involvement, apraxia and abnormalities of brain development. Conclusions The spectrum of conditions that may present with the syndrome of dystonia with Anarthria/aphonia is broad. Various causes may account for the profound speech disturbance. A practical brain MRI-based algorithm is provided to aid the diagnostic procedure.
-
The clinical syndrome of dystonia with Anarthria/aphonia.
Parkinsonism & Related Disorders, 2016Co-Authors: Christos Ganos, Belinda H A Crowe, Maria Stamelou, Nikola Kresojević, Milica Ječmenica Lukić, Jose Bras, Rita Guerreiro, Funmilola Taiwo, Bettina Balint, Amit BatlaAbstract:Abstract Objectives In dystonia the formulation of a clinical syndrome is paramount to refine the list of etiologies. We here describe the rare association of dystonia with Anarthria/aphonia, by examining a large cohort of patients, to provide a narrow field of underlying conditions and a practical algorithmic approach to reach diagnosis. Methods We retrospectively reviewed cases, which were evaluated between 2005 and 2014, to identify those with dystonia combined with marked Anarthria and/or aphonia. We reviewed demographic information, clinical characteristics, as well as clinico-genetic investigations. We evaluated video material where available. Results From 860 cases with dystonia as the predominant motor feature, we identified 32 cases (3.7%) with Anarthria/aphonia. Age at neurological symptom onset was variable, but the majority of cases (n = 20) developed symptoms within their first eight years of life. A conclusive diagnosis was reached in 27 cases. Monoamine neurotransmitter disorders, neurodegeneration with brain iron accumulation syndromes, hypomyelination with atrophy of the basal ganglia and cerebellum, and syndromes with inborn errors of metabolism were the most common diagnoses. Brain MRI was crucial for reaching a diagnosis by examining the structural integrity of the basal ganglia, the cerebral cortex, brain myelination and whether there was abnormal metal deposition. Pathophysiological mechanisms underlying Anarthria/aphonia included dystonia, corticobulbar involvement, apraxia and abnormalities of brain development. Conclusions The spectrum of conditions that may present with the syndrome of dystonia with Anarthria/aphonia is broad. Various causes may account for the profound speech disturbance. A practical brain MRI-based algorithm is provided to aid the diagnostic procedure.
-
dystonia with aphonia slow horizontal saccades epilepsy and photic myoclonus a novel syndrome
Parkinsonism & Related Disorders, 2014Co-Authors: Christos Ganos, Saskia Biskup, Stefanie Kruger, Aracelli Meyerosores, Sibylle Hodecker, Christian Hagel, Ludger Schols, Kailash P Bhatia, Alexander MunchauAbstract:Abstract Background Dystonia with Anarthria and/or aphonia is a rare syndromic association. Here we present two cases with slowly progressive, severe generalized dystonia and aphonia, slow horizontal saccades, epilepsy and photic myoclonus. Methods Detailed clinical data were collected over two decades in the female (index) patient and for nine years in her similarly affected son. Sanger sequencing followed by exome sequencing was performed. Results Both patients had leg onset generalized dystonia with gradual rostral spread including prominent facial and oro-mandibular involvement. The index patient was anarthric, her son aphonic. Both had saccadic slowing, more marked for the horizontal plane, and subclinical epileptic activity. The index patient also had photic myoclonus and a combined axonal and demyelinating neuropathy. Known genetic causes of similar syndromes were not identified. Conclusion These cases with caudo-rostrally spreading generalized dystonia with prominent facial and oro-mandibular involvement, severe speech impairment, marked slowing of horizontal saccades, and photic myoclonus likely represent a novel entity.
Martin R. Turner - One of the best experts on this subject based on the ideXlab platform.
-
Sweet food preference in amyotrophic lateral sclerosis.
Practical neurology, 2017Co-Authors: Martin R. Turner, Kevin TalbotAbstract:An elderly female developed Anarthria with prominent emotionality over an 18-month period before specialist neurological assessment. Although tongue electromyography was normal, her corticobulbar signs were consistent with amyotrophic lateral sclerosis (ALS), a pattern that, in the absence of functional impairment outside of speech and swallowing, is appropriately termed progressive bulbar palsy. Such patients, often elderly females, may remain ambulant and independent for many months, sometimes years, despite typically rapid Anarthria.1 Electromyography may be insensitive to denervation, even when genioglossus is sampled, and this can contribute to diagnostic delay …
-
The diagnostic pathway and prognosis in bulbar-onset amyotrophic lateral sclerosis.
Journal of the neurological sciences, 2010Co-Authors: Martin R. Turner, Jakub Scaber, John A Goodfellow, Melanie E Lord, Rachael Marsden, Kevin TalbotAbstract:Despite the inevitability of disease progression in amyotrophic lateral sclerosis, there is a high degree of prognostic heterogeneity in all subtypes. Some bulbar-onset (BO) patients may develop rapid Anarthria yet remain ambulant for a prolonged period, whereas others progress rapidly, with early generalisation of motor weakness to the limbs and respiratory muscles. Diagnostic delay is a common occurrence in ALS, and many BO patients report having attended other specialist clinics prior to diagnosis. A retrospective descriptive study of BO ALS patients seen in a tertiary clinic over a six year period. Forty-nine BO ALS patients were studied. Median survival from symptom onset was 27 months (range 6-84). 63% of subjects were female and the mean age at symptom onset was 68 years. Half had been referred to another speciality prior to diagnosis, either otolaryngology or stroke clinics, but this did not influence diagnostic latency or survival. Emotionality was reported in 45% of patients. Neurophysiological assessment was performed in 80%, brain imaging recorded in 69%, and antibody testing for myasthenia gravis in 22%. The median time to symptomatic progression beyond the bulbar region was approximately 1 year, with equal proportions progressing to the upper or lower limbs. The median interval from onset to Anarthria was 18 months, and to loss of ambulation 22 months. There was a close correlation between the two (r(2)=0.6) and median survival from loss of ambulation was only 3 months. Gastrostomy was carried out in 78% of patients with a median time of 13 months from symptom onset, and 3 months from diagnosis. Median survival from gastrostomy was 10 months. Survival in bulbar-onset ALS is highly variable. Half of the patients were referred to an inappropriate clinic prior to diagnosis. The time interval to the development of Anarthria predicted the timing of subsequent loss of ambulation accurately from which survival may then be only a few months. Copyright 2010 Elsevier B.V. All rights reserved.
-
The diagnostic pathway and prognosis in bulbar-onset amyotrophic lateral sclerosis.
Journal of the Neurological Sciences, 2010Co-Authors: Martin R. Turner, Jakub Scaber, John A Goodfellow, Melanie E Lord, Rachael Marsden, Kevin TalbotAbstract:Abstract Background Despite the inevitability of disease progression in amyotrophic lateral sclerosis, there is a high degree of prognostic heterogeneity in all subtypes. Some bulbar-onset (BO) patients may develop rapid Anarthria yet remain ambulant for a prolonged period, whereas others progress rapidly, with early generalisation of motor weakness to the limbs and respiratory muscles. Diagnostic delay is a common occurrence in ALS, and many BO patients report having attended other specialist clinics prior to diagnosis. Methods A retrospective descriptive study of BO ALS patients seen in a tertiary clinic over a six year period. Results Forty-nine BO ALS patients were studied. Median survival from symptom onset was 27months (range 6–84). 63% of subjects were female and the mean age at symptom onset was 68years. Half had been referred to another speciality prior to diagnosis, either otolaryngology or stroke clinics, but this did not influence diagnostic latency or survival. Emotionality was reported in 45% of patients. Neurophysiological assessment was performed in 80%, brain imaging recorded in 69%, and antibody testing for myasthenia gravis in 22%. The median time to symptomatic progression beyond the bulbar region was approximately 1year, with equal proportions progressing to the upper or lower limbs. The median interval from onset to Anarthria was 18months, and to loss of ambulation 22months. There was a close correlation between the two ( r 2 =0.6) and median survival from loss of ambulation was only 3months. Gastrostomy was carried out in 78% of patients with a median time of 13months from symptom onset, and 3months from diagnosis. Median survival from gastrostomy was 10months. Conclusions Survival in bulbar-onset ALS is highly variable. Half of the patients were referred to an inappropriate clinic prior to diagnosis. The time interval to the development of Anarthria predicted the timing of subsequent loss of ambulation accurately from which survival may then be only a few months.
Paolo Frigio Nichelli - One of the best experts on this subject based on the ideXlab platform.
-
Anarthria Impairs Subvocal Counting
Perceptual and Motor Skills, 1993Co-Authors: R Cubelli, Paolo Frigio Nichelli, Roberta PentoreAbstract:We studied subvocal counting in two pure anarthric patients. Analysis showed that they performed definitively worse than normal subjects free to articulate subvocally and their scores were in the lower bounds of the performances of subjects suppressing articulation. These results suggest that subvocal counting is impaired after Anarthria.
-
inner speech in Anarthria neuropsychological evidence of differential effects of cerebral lesions on subvocal articulation
Journal of Clinical and Experimental Neuropsychology, 1992Co-Authors: R Cubelli, Paolo Frigio NichelliAbstract:The role of articulation in verbal short-term memory was investigated in two anarthric patients, C.M. and F.C., both showing normal comprehension for written and spoken language, above average intelligence and visuo-spatial abilities. Based on experimental results, we propose that subvocal articulation might be impaired in anarthric patients in different ways, according to the site of lesion: in 'locked-in' patients only the articulatory rehearsal processes necessary to enhance memory performances is involved, while in cortical anarthric patients the lesion affects the articulatory recoding processes involved in transferring visually presented material into an articulatory form for better retention.
Mónica Diez - One of the best experts on this subject based on the ideXlab platform.
-
Subcortical Anarthria: a case report.
Brain and language, 2001Co-Authors: Jorge A. Ure, Carlos Morasso, Jorge Funes, Juan Ollari, Hugo Videla, Mónica DiezAbstract:A 56-year-old right-handed male with a history of hypertension and diabetes presented two episodes of stroke: The first affected territory was the left anterior coroidal artery (capsular and paracapsular infarcts at the level of the genu and posterior arm of the internal capsule) and the second was the right thalamus, due to a hematoma. Following the first stroke, the patient developed severe dysarthria and after the second stroke remained anarthric. The pathophysiology of the disorder is discussed, and the role of the left and right thalamus as far as speech is concerned is reviewed.