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Dementia & Neuropsychologia 2024Corticobasal syndrome (CBS) is a rare cause of dementia and comprises varied combinations of subcortical signs (akinetic-rigid parkinsonism, dystonia, or myoclonus) with...
Corticobasal syndrome (CBS) is a rare cause of dementia and comprises varied combinations of subcortical signs (akinetic-rigid parkinsonism, dystonia, or myoclonus) with cortical signs (apraxia, alien hand or cortical sensory deficit), usually asymmetric. We aimed to report and compare the clinical and neuroimaging presentation of two patients diagnosed with CBS. While case 1 had severe non-fluent aphasia associated with mild apraxia and limb rigidity, case 2 had a more posterior cognitive impairment, with a different language pattern associated with marked visuospatial errors and hemineglect. FDG PET played a significant role in diagnosis, suggesting, in the first case, corticobasal degeneration and, in the second, Alzheimer's disease pattern. CBS has been widely studied with the advent of new methods such as brain FDG PET. Studies that deepen the phenotypic and biomarker heterogeneity of CBS will be of great importance for better classification, prognosis, and treatment of the condition.
PubMed: 38933079
DOI: 10.1590/1980-5764-DN-2023-0085 -
Dementia & Neuropsychologia 2024The French composer, Maurice Ravel, at the peak of his career, showed signs of a progressive disorder that affected his ability to function with verbal and musical...
The French composer, Maurice Ravel, at the peak of his career, showed signs of a progressive disorder that affected his ability to function with verbal and musical language, as noted by the neurologist Théophile Alajouanine. The worsening of the disease led to a craniotomy, performed in 1937, which failed to reveal the cause of his illness, and he died shortly thereafter. A lack of post-mortem neuropathological evidence precluded a definitive diagnosis of the illness, which remained enigmatic. Speculations about the precise diagnosis of Ravel's neurological disease have been largely based on Alajouanine's observations, which included aphasia and amusia, mostly expressive, and ideomotor apraxia, while musical judgement, taste, and memory remained relatively intact, implying different neuroanatomical substrates. A possible subform of frontotemporal lobar degeneration complex was the diagnostic suggestion of many authors. His untimely death deprived the world of this remarkable musician, and the music that remained trapped in his mind.
PubMed: 38933078
DOI: 10.1590/1980-5764-DN-2023-0108 -
Brain Sciences May 2024Childhood apraxia of speech (CAS) represents a significant diagnostic and therapeutic challenge within the field of clinical neuropsychology, characterized by its...
Childhood apraxia of speech (CAS) represents a significant diagnostic and therapeutic challenge within the field of clinical neuropsychology, characterized by its nuanced presentation and multifactorial nature. The aim of this study was to distil and synthesize the broad spectrum of research into a coherent model for the assessment and diagnosis of CAS. Through a mixed-method design, the quantitative phase analyzed 290 studies, unveiling 10 clusters: developmental apraxia, tabby talk, intellectual disabilities, underlying speech processes, breakpoint localization, speech characteristics, functional characteristics, clinical practice, and treatment outcome. The qualitative phase conducted a thematic analysis on the most cited and recent literature, identifying 10 categories: neurobiological markers, speech motor control, perceptual speech features, auditory processing, prosody and stress patterns, parent- and self-report measures, intervention response, motor learning and generalization, comorbidity analysis, and cultural and linguistic considerations. Integrating these findings, a descriptive and prescriptive model was developed, encapsulating the complexities of CAS and providing a structured approach for clinicians. This model advances the understanding of CAS and supports the development of targeted interventions. This study concludes with a call for evidence-based personalized treatment plans that account for the diverse neurobiological and cultural backgrounds of children with CAS. Its implications for practice include the integration of cutting-edge assessment tools that embrace the heterogeneity of CAS presentations, ensuring that interventions are as unique as the children they aim to support.
PubMed: 38928540
DOI: 10.3390/brainsci14060540 -
Molecular Genetics and Metabolism Jun 2024Gaucher disease (GD) is a lysosomal storage disorder with glucocerebroside accumulation in the macrophages. The disease is divided into three types based on...
Gaucher disease (GD) is a lysosomal storage disorder with glucocerebroside accumulation in the macrophages. The disease is divided into three types based on neurocognitive involvement with GD1 having no involvement while the acute (GD2) and chronic (GD3) are neuronopathic. The non-neurological symptoms of GD3 are well treated with enzyme replacement therapy (ERT) which has replaced hematopoietic stem cell transplantation (HSCT). ERT is unable to prevent neurological progression as the enzyme cannot cross the blood-brain barrier. In this retrospective study, we report the general, neurocognitive, and biochemical outcomes of three siblings with GD3 after treatment with ERT or HSCT. Two were treated with HSCT (named HSCT1 and HSCT2) and one with ERT (ERT1). All patients were homozygous for the c.1448 T > C, (p.Leu483Pro) variant in the GBA1 gene associated with GD3. ERT1 experienced neurocognitive progression with development of seizures, oculomotor apraxia, perceptive hearing loss and mental retardation. HSCT1 had no neurological manifestations, while HSCT2 developed perceptive hearing loss and low IQ. Chitotriosidase concentrations were normal in plasma and cerebrospinal fluid (CSF) for HSCT1 and HSCT2, but both were markedly elevated in ERT1. We report a better neurological outcome and a normalization of chitotriosidase in the two siblings treated with HSCT compared to the ERT-treated sibling. With the advancements in HSCT over the past 25 years, we may reconsider using HSCT in GD3 to achieve a better neurological outcome and limit disease progression.
PubMed: 38909587
DOI: 10.1016/j.ymgme.2024.108515 -
Movement Disorders Clinical Practice Jun 2024Heterozygous mutations in GBA1 gene are known as most common genetic risk factor for Parkinson's disease (PD). However, role of GBA1 mutations in non-α-synuclein...
BACKGROUND
Heterozygous mutations in GBA1 gene are known as most common genetic risk factor for Parkinson's disease (PD). However, role of GBA1 mutations in non-α-synuclein disorders is unclear.
CASES
Case index, 76 year-old woman referred to our movement disorders outpatient clinic for 2-year history of gait impairment, falls and motor slowness, with partial response to levodopa. Clinical and instrumental examinations were consistent with Progressive Supranuclear Palsy-Corticobasal Syndrome (PSP-CBS). Case 2 is older sister reporting depressive symptoms; however, she had dementia (MMSE 18/30), gait apraxia and vertical supranuclear gaze palsy (VSNGP). Case 3 is her deceased older sister who had been diagnosed with Corticobasal Syndrome (CBS). Case 4, older brother had been diagnosed with Parkinson's disease-dementia (PDD) with good response to levodopa. Two affected living siblings harboring same genetic variant.
CONCLUSIONS
To our knowledge, this is the first family showing such intrafamilial variability ranging from CBS to PDD to dementia.
PubMed: 38881158
DOI: 10.1002/mdc3.14146 -
Movement Disorders Clinical Practice Jun 2024
PubMed: 38881152
DOI: 10.1002/mdc3.14132 -
Parkinsonism & Related Disorders Jun 2024Patients with classic-onset corticobasal syndrome (CBS) present with asymmetric limb apraxia and parkinsonism. We have, however, observed patients who initially present...
INTRODUCTION
Patients with classic-onset corticobasal syndrome (CBS) present with asymmetric limb apraxia and parkinsonism. We have, however, observed patients who initially present with speech and/or language (SL) problems and several years later develop CBS (i.e., SL-onset CBS). We aimed to compare clinical, neuroimaging and pathological characteristics of classic-onset CBS with SL-onset CBS.
METHODS
We conducted a retrospective cohort study of 62 patients who met criteria for CBS (17 presented with classic-onset CBS and 45 had SL-onset CBS). We compared demographics, clinical characteristics, and grey and white matter volume loss with SPM12 between groups and assessed pathology and corticobasal degeneration (CBD) pathological lesion counts in patients who had died and undergone autopsy.
RESULTS
Median age at CBS diagnosis was 66.4 years in classic-onset CBS and 73.6 years in SL-onset CBS. Classic-onset CBS had higher frequencies of dystonia, myoclonus, and alien limb phenomenon, while SL-onset CBS had a higher frequency of vertical supranuclear gaze palsy. Both groups showed smaller frontoparietal volumes than controls, with SL-onset CBS having greater volume loss in the left supplementary motor area than classic-onset CBS. All three classic-onset CBS cases with autopsy (100 %) had CBD pathology while 8/21 of SL-onset CBS cases (38 %) had CBD. Pathological lesion burden (including astrocytic plaques) did not differ between classic-onset and SL-onset CBS.
CONCLUSION
Classic-onset and SL-onset CBS appear to be different syndromes, with the former being a more profuse motor syndrome. The more widespread volume loss in SL-onset CBS likely reflects longer disease course.
PubMed: 38875956
DOI: 10.1016/j.parkreldis.2024.107025 -
Neuropsychological Rehabilitation Jun 2024It is unclear whether individuals with agrammatic aphasia have particularly disrupted prosody, or in fact have relatively preserved prosody they can use in a... (Review)
Review
It is unclear whether individuals with agrammatic aphasia have particularly disrupted prosody, or in fact have relatively preserved prosody they can use in a compensatory way. A targeted literature review was undertaken to examine the evidence regarding the capacity of speakers with agrammatic aphasia to produce prosody. The aim was to answer the question, how much prosody can a speaker "do" with limited syntax? The literature was systematically searched for articles examining the production of grammatical prosody in people with agrammatism, and yielded 16 studies that were ultimately included in this review. Participant inclusion criteria, spoken language tasks, and analysis procedures vary widely across studies. The evidence indicates that timing aspects of prosody are disrupted in people with agrammatic aphasia, while the use of pitch and amplitude cues is more likely to be preserved in this population. Some, but not all, of these timing differences may be attributable to motor speech programming deficits (AOS) rather than aphasia, as these conditions frequently co-occur. Many of the included studies do not address AOS and its possible role in any observed effects. Finally, the available evidence indicates that even speakers with severe aphasia show a degree of preserved prosody in functional communication.
PubMed: 38848458
DOI: 10.1080/09602011.2024.2362243 -
The Neurologist Jun 2024Symptomatic carotid artery disease (CAD) represents an uncommon but treatable cause of corticobasal syndrome.
INTRODUCTION
Symptomatic carotid artery disease (CAD) represents an uncommon but treatable cause of corticobasal syndrome.
CASE REPORT
We present the clinical details and successful management of a previously healthy 77-year-old patient who presented with 1-year cognitive dysfunction, alien limb syndrome, limb kinetic apraxia, and ipsilateral cortical sensory deficit, fulfilling the criteria of the diagnosis of probable corticobasal syndrome. Imaging modalities, including magnetic resonance imaging and time-of-flight magnetic resonance angiography, revealed acute external borderzone infarcts of the right hemisphere due to symptomatic CAD causing near occlusion of the vessel. The patient underwent a right carotid endarterectomy, leading to a marked improvement in mobility and neuropsychological evaluation.
CONCLUSION
This case highlights the importance of swift diagnosis of symptomatic CAD in patients with corticobasal syndrome. Moreover, it emphasizes the efficacy of carotid endarterectomy in achieving symptom improvement in such cases.
PubMed: 38845205
DOI: 10.1097/NRL.0000000000000573 -
American Journal of Speech-language... Jun 2024We describe the communication challenges of four patients with a neurodegenerative disorder consistent with behavioral variant frontotemporal dementia (bvFTD),...
PURPOSE
We describe the communication challenges of four patients with a neurodegenerative disorder consistent with behavioral variant frontotemporal dementia (bvFTD), characterized by early behavioral and personality changes. By describing their clinical profiles, we identify common barriers to functional communication in this population and provide recommendations for how speech-language pathologists (SLPs) might contribute to minimizing them.
METHOD
Four patients with bvFTD were selected from a cohort of patients with progressive communication impairments. Three of them returned for at least one follow-up visit. Case histories are presented along with the results of comprehensive speech and language, neuropsychological, and neurological testing.
RESULTS
At the time of initial evaluation, patients were between the ages of 54 and 66 years and had been experiencing symptoms for 1.5-6 years. Consistent with their bvFTD diagnoses, all patients had prominent behavioral and personality changes that impacted communication. Patients 1 and 2 also had mild aphasia at enrollment, primarily characterized by anomia and loss of word meaning. Patients 3 and 4 both had apraxia of speech and moderate-to-severe aphasia at enrollment with prominent anomia and agrammatism. All four patients had impaired executive functioning and relative sparing of visuospatial skills; episodic memory was also impaired for Patients 2 and 4. Even though functional communication was progressively limited for all patients, none of them received regular support from an SLP.
CONCLUSIONS
This case series adds to a scant, but growing, literature demonstrating that patients with bvFTD have communication impairments. SLPs are uniquely positioned to identify barriers to functional communication and to provide tailored strategy training to the patients and their care partners over the course of their disease. Systematic evaluation of the efficacy of treatment in this population would be valuable.
SUPPLEMENTAL MATERIAL
https://doi.org/10.23641/asha.25933762.
PubMed: 38843453
DOI: 10.1044/2024_AJSLP-24-00013