Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study
ConclusionsThis study highlights the importance of PGT-M in preventing children born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes. (Source: Journal of Assisted Reproduction and Genetics)
Source: Journal of Assisted Reproduction and Genetics - March 12, 2024 Category: Reproduction Medicine Source Type: research
Neurological autoimmunity in patients with non-pulmonary neuroendocrine neoplasms: clinical manifestations and neural autoantibody profiles
DISCUSSION: Neurological autoimmunity associated with non-pulmonary NENs is often multifocal and can be treatment responsive, underscoring the importance of rapid recognition and early treatment.PMID:38466015 | DOI:10.1111/ene.16273 (Source: Cancer Control)
Source: Cancer Control - March 11, 2024 Category: Cancer & Oncology Authors: Georgios Mangioris Thorvardur R Halfdanarson Vanda A Lennon Bryce K Chang Divyanshu Dubey P James B Dyck Eoin P Flanagan Andrew McKeon John R Mills Sean J Pittock Anastasia Zekeridou Source Type: research
Autoimmune nodopathy with anti-contactin 1 antibody characterized by cerebellar dysarthria: a case report and literature review
ConclusionApart from peripheral neuropathies, cerebellar dysarthria (central nervous system involvement) should not be ignored in AN patients with CNTN1 antibodies. (Source: Frontiers in Immunology)
Source: Frontiers in Immunology - March 8, 2024 Category: Allergy & Immunology Source Type: research
Optimizing Communication in Ataxia: A Multifaceted Approach to Alternative and Augmentative Communication (AAC)
AbstractThe progression of multisystem neurodegenerative diseases such as ataxia significantly impacts speech and communication, necessitating adaptive clinical care strategies. With the deterioration of speech, Alternative and Augmentative Communication (AAC) can play an ever increasing role in daily life for individuals with ataxia. This review describes the spectrum of AAC resources available, ranging from unaided gestures and sign language to high-tech solutions like speech-generating devices (SGDs) and eye-tracking technology. Despite the availability of various AAC tools, their efficacy is often compromised by the ph...
Source: The Cerebellum - March 7, 2024 Category: Neurology Source Type: research
Optimizing Communication in Ataxia: A Multifaceted Approach to Alternative and Augmentative Communication (AAC)
Cerebellum. 2024 Mar 7. doi: 10.1007/s12311-024-01675-0. Online ahead of print.ABSTRACTThe progression of multisystem neurodegenerative diseases such as ataxia significantly impacts speech and communication, necessitating adaptive clinical care strategies. With the deterioration of speech, Alternative and Augmentative Communication (AAC) can play an ever increasing role in daily life for individuals with ataxia. This review describes the spectrum of AAC resources available, ranging from unaided gestures and sign language to high-tech solutions like speech-generating devices (SGDs) and eye-tracking technology. Despite the a...
Source: Cerebellum - March 6, 2024 Category: Neuroscience Authors: Adam P Vogel Caroline Spencer Katie Burke Daniella de Bruyn Peter Gibilisco Scott Blackman Jennifer M Vojtech Thayabaran Kathiresan Source Type: research
Correction: Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration
Cerebellum. 2024 Mar 6. doi: 10.1007/s12311-024-01681-2. Online ahead of print.NO ABSTRACTPMID:38446346 | DOI:10.1007/s12311-024-01681-2 (Source: Cerebellum)
Source: Cerebellum - March 6, 2024 Category: Neuroscience Authors: M ónica Ferreira Tamara Schaprian David K ügler Martin Reuter Katharina Deike-Hoffmann Dagmar Timmann Thomas M Ernst Paola Giunti Hector Garcia-Moreno Bart van de Warrenburg Judith van Gaalen Jeroen de Vries Heike Jacobi Katharina Marie Steiner G ülin Source Type: research
Delays in latencies of median-nerve evoked magnetic fields in patients with succinic semialdehyde dehydrogenase deficiency
CONCLUSIONS: The SEF latencies are delayed in patients with SSADHD compared with healthy controls and disease controls.SIGNIFICANCE: This is the first study that compares conduction velocities in the somatosensory pathway in SSADHD, an inherited disorder of GABA metabolism. The longer peak latency implying slower conduction velocity supports the hypothesis that myelin sheath thickness is decreased in SSADHD.PMID:38447494 | DOI:10.1016/j.clinph.2024.02.010 (Source: Clinical Neurophysiology)
Source: Clinical Neurophysiology - March 6, 2024 Category: Neurology Authors: Teppei Matsubara Sheraz Khan Padmavathi Sundaram Steven Stufflebeam Deniz Aygun Melissa DiBacco Jean-Baptiste Roullet Phillip L Pearl Yoshio Okada Source Type: research
Optimizing Communication in Ataxia: A Multifaceted Approach to Alternative and Augmentative Communication (AAC)
Cerebellum. 2024 Mar 7. doi: 10.1007/s12311-024-01675-0. Online ahead of print.ABSTRACTThe progression of multisystem neurodegenerative diseases such as ataxia significantly impacts speech and communication, necessitating adaptive clinical care strategies. With the deterioration of speech, Alternative and Augmentative Communication (AAC) can play an ever increasing role in daily life for individuals with ataxia. This review describes the spectrum of AAC resources available, ranging from unaided gestures and sign language to high-tech solutions like speech-generating devices (SGDs) and eye-tracking technology. Despite the a...
Source: Cerebellum - March 6, 2024 Category: Neuroscience Authors: Adam P Vogel Caroline Spencer Katie Burke Daniella de Bruyn Peter Gibilisco Scott Blackman Jennifer M Vojtech Thayabaran Kathiresan Source Type: research
Correction: Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration
Cerebellum. 2024 Mar 6. doi: 10.1007/s12311-024-01681-2. Online ahead of print.NO ABSTRACTPMID:38446346 | DOI:10.1007/s12311-024-01681-2 (Source: Cerebellum)
Source: Cerebellum - March 6, 2024 Category: Neuroscience Authors: M ónica Ferreira Tamara Schaprian David K ügler Martin Reuter Katharina Deike-Hoffmann Dagmar Timmann Thomas M Ernst Paola Giunti Hector Garcia-Moreno Bart van de Warrenburg Judith van Gaalen Jeroen de Vries Heike Jacobi Katharina Marie Steiner G ülin Source Type: research
Correction: Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration
Cerebellum. 2024 Mar 6. doi: 10.1007/s12311-024-01681-2. Online ahead of print.NO ABSTRACTPMID:38446346 | DOI:10.1007/s12311-024-01681-2 (Source: Cerebellum)
Source: Cerebellum - March 6, 2024 Category: Neuroscience Authors: M ónica Ferreira Tamara Schaprian David K ügler Martin Reuter Katharina Deike-Hoffmann Dagmar Timmann Thomas M Ernst Paola Giunti Hector Garcia-Moreno Bart van de Warrenburg Judith van Gaalen Jeroen de Vries Heike Jacobi Katharina Marie Steiner G ülin Source Type: research
Optimizing Communication in Ataxia: A Multifaceted Approach to Alternative and Augmentative Communication (AAC)
Cerebellum. 2024 Mar 7. doi: 10.1007/s12311-024-01675-0. Online ahead of print.ABSTRACTThe progression of multisystem neurodegenerative diseases such as ataxia significantly impacts speech and communication, necessitating adaptive clinical care strategies. With the deterioration of speech, Alternative and Augmentative Communication (AAC) can play an ever increasing role in daily life for individuals with ataxia. This review describes the spectrum of AAC resources available, ranging from unaided gestures and sign language to high-tech solutions like speech-generating devices (SGDs) and eye-tracking technology. Despite the a...
Source: Cerebellum - March 6, 2024 Category: Neuroscience Authors: Adam P Vogel Caroline Spencer Katie Burke Daniella de Bruyn Peter Gibilisco Scott Blackman Jennifer M Vojtech Thayabaran Kathiresan Source Type: research
Correction: Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration
Cerebellum. 2024 Mar 6. doi: 10.1007/s12311-024-01681-2. Online ahead of print.NO ABSTRACTPMID:38446346 | DOI:10.1007/s12311-024-01681-2 (Source: Cerebellum)
Source: Cerebellum - March 6, 2024 Category: Neuroscience Authors: M ónica Ferreira Tamara Schaprian David K ügler Martin Reuter Katharina Deike-Hoffmann Dagmar Timmann Thomas M Ernst Paola Giunti Hector Garcia-Moreno Bart van de Warrenburg Judith van Gaalen Jeroen de Vries Heike Jacobi Katharina Marie Steiner G ülin Source Type: research
Optimizing Communication in Ataxia: A Multifaceted Approach to Alternative and Augmentative Communication (AAC)
Cerebellum. 2024 Mar 7. doi: 10.1007/s12311-024-01675-0. Online ahead of print.ABSTRACTThe progression of multisystem neurodegenerative diseases such as ataxia significantly impacts speech and communication, necessitating adaptive clinical care strategies. With the deterioration of speech, Alternative and Augmentative Communication (AAC) can play an ever increasing role in daily life for individuals with ataxia. This review describes the spectrum of AAC resources available, ranging from unaided gestures and sign language to high-tech solutions like speech-generating devices (SGDs) and eye-tracking technology. Despite the a...
Source: Cerebellum - March 6, 2024 Category: Neuroscience Authors: Adam P Vogel Caroline Spencer Katie Burke Daniella de Bruyn Peter Gibilisco Scott Blackman Jennifer M Vojtech Thayabaran Kathiresan Source Type: research
Correction: Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration
Cerebellum. 2024 Mar 6. doi: 10.1007/s12311-024-01681-2. Online ahead of print.NO ABSTRACTPMID:38446346 | DOI:10.1007/s12311-024-01681-2 (Source: Cerebellum)
Source: Cerebellum - March 6, 2024 Category: Neuroscience Authors: M ónica Ferreira Tamara Schaprian David K ügler Martin Reuter Katharina Deike-Hoffmann Dagmar Timmann Thomas M Ernst Paola Giunti Hector Garcia-Moreno Bart van de Warrenburg Judith van Gaalen Jeroen de Vries Heike Jacobi Katharina Marie Steiner G ülin Source Type: research
