RESUMO
Internal models are essential for the production of accurate movements. The accuracy of saccadic eye movements is thought to be mediated by an internal model of oculomotor mechanics encoded in the cerebellum. The cerebellum may also be part of a feedback loop that predicts the displacement of the eyes and compares it to the desired displacement in real time to ensure that saccades land on target. To investigate the role of the cerebellum in these two aspects of saccade production, we delivered saccade-triggered light pulses to channelrhodopsin-2-expressing Purkinje cells in the oculomotor vermis (OMV) of two male macaque monkeys. Light pulses delivered during the acceleration phase of ipsiversive saccades slowed the deceleration phase. The long latency of these effects and their scaling with light pulse duration are consistent with an integration of neural signals at or downstream of the stimulation site. In contrast, light pulses delivered during contraversive saccades reduced saccade velocity at short latency and were followed by a compensatory reacceleration which caused gaze to land on or near the target. We conclude that the contribution of the OMV to saccade production depends on saccade direction; the ipsilateral OMV is part of a forward model that predicts eye displacement, whereas the contralateral OMV is part of an inverse model that creates the force required to move the eyes with optimal peak velocity for the intended displacement.
Assuntos
Optogenética , Movimentos Sacádicos , Animais , Masculino , Movimentos Oculares , Cerebelo/fisiologia , Macaca nemestrinaRESUMO
INTRODUCTION: Joubert syndrome (JS) arises from defects of primary cilia resulting in potential malformations of the brain, kidneys, eyes, liver, and limbs. Several of the 35+ genes associated with JS have recognized genotype/phenotype correlations, but most genes have not had enough reported individuals to draw meaningful conclusions. METHODS: A PubMed literature review identified 688 individuals with JS across 32 genes and 112 publications to bolster known genotype/phenotype relationships and identify new correlations. All included patients had the "molar tooth sign" and a confirmed genetic diagnosis. Individuals were categorized by age, ethnicity, sex and the presence of developmental disability/intellectual disability, hypotonia, abnormal eye movements, ataxia, visual impairment, renal impairment, polydactyly, and liver abnormalities. RESULTS: Most genes demonstrated unique phenotypic profiles. Grouping proteins based on physiologic interactions established stronger phenotypic relationships that reflect known ciliary pathophysiology. Age-stratified data demonstrated that end-organ disease is progressive in JS. Most genes demonstrated a significant skew towards having variants with either residual protein function or no residual protein function. CONCLUSION: This cohort demonstrates that clinically meaningful genotype/phenotype relationships exist within most JS-related genes and can be referenced to allow for more personalized clinical care.
Assuntos
Anormalidades Múltiplas , Anormalidades do Olho , Doenças Renais Císticas , Humanos , Anormalidades Múltiplas/genética , Cerebelo/anormalidades , Doenças Renais Císticas/genética , Anormalidades do Olho/genética , Retina/anormalidades , Proteínas/genética , Variação Biológica da PopulaçãoRESUMO
BACKGROUND: Based on a limited number of reported families, biallelic CA8 variants have currently been associated with a recessive neurological disorder named, cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CAMRQ-3). OBJECTIVES: We aim to comprehensively investigate CA8-related disorders (CA8-RD) by reviewing existing literature and exploring neurological, neuroradiological, and molecular observations in a cohort of newly identified patients. METHODS: We analyzed the phenotype of 27 affected individuals from 14 families with biallelic CA8 variants (including data from 15 newly identified patients from eight families), ages 4 to 35 years. Clinical, genetic, and radiological assessments were performed, and zebrafish models with ca8 knockout were used for functional analysis. RESULTS: Patients exhibited varying degrees of neurodevelopmental disorders (NDD), along with predominantly progressive cerebellar ataxia and pyramidal signs and variable bradykinesia, dystonia, and sensory impairment. Quadrupedal gait was present in only 10 of 27 patients. Progressive selective cerebellar atrophy, predominantly affecting the superior vermis, was a key diagnostic finding in all patients. Seven novel homozygous CA8 variants were identified. Zebrafish models demonstrated impaired early neurodevelopment and motor behavior on ca8 knockout. CONCLUSION: Our comprehensive analysis of phenotypic features indicates that CA8-RD exhibits a wide range of clinical manifestations, setting it apart from other subtypes within the category of CAMRQ. CA8-RD is characterized by cerebellar atrophy and should be recognized as part of the autosomal-recessive cerebellar ataxias associated with NDD. Notably, the presence of progressive superior vermis atrophy serves as a valuable diagnostic indicator. © 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Assuntos
Ataxia Cerebelar , Peixe-Zebra , Humanos , Ataxia Cerebelar/genética , Criança , Adolescente , Masculino , Feminino , Pré-Escolar , Animais , Adulto , Adulto Jovem , Anoctaminas/genética , Deficiência Intelectual/genética , Fenótipo , Transtornos do Neurodesenvolvimento/genéticaRESUMO
Schizophrenia (SCZ) is a well-studied neuropsychiatric condition that has been shown to have a high degree of genetic heritability. Still, little data on the specific genetic risk variants associated with the disease exists. Classification of the SCZ phenotype into SCZ-related endophenotypes is a promising methodology to parse out and elucidate the specific genetic risk variants for each. Here, we present a series of 17 previously reported individuals and a new proband with similar SCZ-related neuropsychiatric characteristics and shared brain imaging findings. Unsurprisingly, these individuals shared classic psychiatric features of SCZ. Interestingly, we also identified shared neuropsychiatric features in this series of individuals that had not been highlighted previously. A consistently decreased IQ, memory impairment, sleep and speech disturbances, and attention deficits were commonly reported findings. The brain imaging findings among these individuals also consistently showed posterior vermis predominant cerebellar hypoplasia (CBLH-V). Most individuals' diagnoses were initially described as Dandy-Walker malformation; however, our independent review of imaging suggests a more consistent pattern of posterior vermis predominant cerebellar hypoplasia rather than true Dandy-Walker malformation. While the specific genetic risk variants for this endophenotype are yet to be described, the aim of this paper is to present the shared neuropsychiatric features and consistent, symmetrical brain image findings which suggest that this subset of individuals comprises an endophenotype of SCZ with a high genetic solve rate.
Assuntos
Cerebelo/anormalidades , Síndrome de Dandy-Walker , Malformações do Sistema Nervoso , Transtornos Psicóticos , Esquizofrenia , Humanos , Síndrome de Dandy-Walker/diagnóstico , Esquizofrenia/diagnóstico por imagem , Esquizofrenia/genética , Cerebelo/diagnóstico por imagem , Deficiências do DesenvolvimentoRESUMO
OBJECTIVES: Fetuses with late-onset growth restriction (FGR) have a higher risk of suboptimal neurocognitive performance after birth. Previous studies have reported that impaired brain and cortical development can start in utero. The primary aim of this study was to report midline structure growth and cortical development in fetuses with late-onset FGR according to its severity; the secondary aim was to elucidate whether the severity of FGR, as defined by the presence of abnormal Doppler findings, plays a role in affecting brain growth and maturation. METHODS: This was a prospective observational study that included fetuses with late-onset FGR (defined according to the Delphi FGR criteria) undergoing neurosonography between 32 and 34 weeks' gestation. Midline structure (corpus callosum (CC) and cerebellar vermis (CV)) length and cortical development, including the depth of the Sylvian (SF), parieto-occipital (POF) and calcarine (CF) fissures, were compared between late-onset FGR, small-for-gestational-age (SGA) and appropriate-for-gestational-age (AGA) fetuses. Subgroup analysis according to the severity of FGR (normal vs abnormal fetal Doppler) was also performed. Univariate analysis was used to analyze the data. RESULTS: A total of 52 late-onset FGR fetuses with normal Doppler findings, 60 late-onset FGR fetuses with abnormal Doppler findings, 64 SGA fetuses and 100 AGA fetuses were included in the analysis. When comparing AGA controls with SGA fetuses, late-onset FGR fetuses with normal Doppler findings and late-onset FGR fetuses with abnormal Doppler findings, there was a progressive and significant reduction in the absolute values of the following parameters: CC length (median (interquartile range (IQR)), 43.5 (28.9-56.1) mm vs 41.9 (27.8-51.8) mm vs 38.5 (29.1-50.5) mm vs 31.7 (23.8-40.2) mm; K = 26.68; P < 0.0001), SF depth (median (IQR), 14.5 (10.7-16.8) mm vs 12.7 (9.8-15.1) mm vs 11.9 (9.1-13.4) mm vs 8.3 (6.7-10.3) mm; K = 75.82; P < 0.0001), POF depth (median (IQR), 8.6 (6.3-11.1) mm vs 8.1 (5.6-10.4) mm vs 7.8 (6.1-9.3) mm vs 6.6 (4.2-8.0) mm; K = 45.06; P < 0.0001) and CF depth (median (IQR), 9.3 (6.7-11.5) mm vs 8.2 (5.7-10.7) mm vs 7.7 (5.2-9.4) mm vs 6.3 (4.5-7.2) mm; K = 46.14; P < 0.0001). Absolute CV length was significantly higher in AGA fetuses compared with all other groups, although the same progressive pattern was not noted (median (IQR), 24.9 (17.6-29.2) mm vs 21.6 (15.2-26.1) mm vs 19.1 (13.8-25.9) mm vs 21.0 (13.5-25.8) mm; K = 16.72; P = 0.0008). When the neurosonographic variables were corrected for fetal head circumference, a significant difference in the CC length and SF, POF and CF depths, but not CV length, was observed only in late-onset FGR fetuses with abnormal Doppler findings when compared with AGA and SGA fetuses. CONCLUSIONS: Fetuses with late-onset FGR had shorter CC length and delayed cortical development when compared with AGA fetuses. After controlling for fetal head circumference, these differences remained significant only in late-onset FGR fetuses with abnormal Doppler. These findings support the existence of a link between brain development and impaired placental function. © 2024 International Society of Ultrasound in Obstetrics and Gynecology.
Assuntos
Retardo do Crescimento Fetal , Ultrassonografia Pré-Natal , Humanos , Retardo do Crescimento Fetal/diagnóstico por imagem , Retardo do Crescimento Fetal/fisiopatologia , Feminino , Estudos Prospectivos , Gravidez , Adulto , Idade Gestacional , Recém-Nascido Pequeno para a Idade Gestacional , Recém-Nascido , Desenvolvimento Fetal/fisiologia , Índice de Gravidade de Doença , Corpo Caloso/diagnóstico por imagem , Corpo Caloso/embriologia , Córtex Cerebral/diagnóstico por imagem , Córtex Cerebral/embriologia , Ultrassonografia Doppler , Terceiro Trimestre da GravidezRESUMO
OBJECTIVES: Our objectives were: (1) to assess the visualization rate of the choroid bar in a consecutive series of 306 first-trimester scans; (2) to verify, in this cohort of fetuses, the normality of the posterior fossa later in pregnancy; and (3) to confirm the non-visualization of the choroid bar in a retrospective series of fetuses with posterior fossa malformations. METHODS: This study included a prospective and a retrospective series. The former comprised 306 fetuses undergoing routine obstetric ultrasound at our unit in both the first and second trimesters over a 6-month period, while the latter comprised 12 cases of posterior fossa malformations. In the prospective study, the presence of the choroid bar, which is defined as a visually continuous, homogeneously hyperechogenic, thick structure bridging the cisterna magna from side to side, was evaluated at the end of the first-trimester nuchal translucency scan. In the retrospective study, previously acquired three-dimensional volume datasets were processed in order to assess whether the choroid bar could be visualized in cases of open spinal dysraphisms and vermian cystic anomalies. In the prospective study, confirmation of a normal posterior fossa was based on the sonographic features of this anatomical region at the time of the second-trimester anomaly scan at 19-21 weeks' gestation, while, in the retrospective study, it was based on autopsy results, when available, or further direct imaging of the defect later in pregnancy. RESULTS: In the prospective study, the choroid bar could be visualized in all 306 fetuses, on transabdominal ultrasound in 287 (93.8%) cases and on transvaginal ultrasound in 19 (6.2%) cases. The choroid bar was displayed with a ventral/dorsal approach in 67 (21.9%) cases, with a lateral approach in 56 (18.3%) cases and with both in 183 (59.8%) cases. All 306 cases were confirmed to have a sonographically normal posterior fossa at 19-21 weeks. On the other hand, in the retrospective study, it was not possible to visualize the choroid bar in any of the fetuses with posterior fossa malformations. CONCLUSIONS: We have described a new sign, the choroid bar, consistent with a normal posterior fossa at 12-14 weeks' gestation. The choroid bar provides the option of screening for major abnormalities of the posterior fossa, since its absence raises suspicion of both open spinal dysraphisms and posterior fossa cystic malformations. At the same time, it is easy to visualize, as it can be seen with all lines of insonation. © 2023 International Society of Ultrasound in Obstetrics and Gynecology.
Assuntos
Síndrome de Dandy-Walker , Disrafismo Espinal , Gravidez , Feminino , Humanos , Estudos Retrospectivos , Síndrome de Dandy-Walker/genética , Estudos Prospectivos , Fossa Craniana Posterior/diagnóstico por imagem , Fossa Craniana Posterior/anormalidades , Ultrassonografia Pré-Natal/métodosRESUMO
Pediatric low-grade gliomas (pLGGs) in the cerebellar vermis present unique challenges due to their intricate anatomical location and potential impact on critical neurological functions. Surgical intervention remains a cornerstone in the management of these tumors, aiming to achieve maximal tumor resection while preserving neurological function. In this review, the authors will discuss anatomical consideration and will explore current surgical techniques and strategies employed in the treatment of cerebellar vermis pLGGs such as the midline and lateral suboccipital approaches, as well as endoscopic-assisted technique. Additionally, we will emphasize the importance of intraoperative neurophysiological monitoring (IONM) in ensuring safe and effective tumor resection. Overall, this review provides insights into the neurosurgical approach of pLGGs in the cerebellar vermis.
RESUMO
OBJECTIVES: To investigate midbrain growth, including corpus callusum (CC) and cerebellar vermis (CV) and cortical development in late fetal growth restricted (FGR) subclassified according to the umbilical vein blood flow (UVBF) values. METHODS: This was a prospective study on singleton fetuses late FGR with abnormal placental cerebral ratio (PCR). FGR fetuses were further subdivided into normal (≥fifth centile) and abnormal (Assuntos
Retardo do Crescimento Fetal
, Mesencéfalo
, Ultrassonografia Pré-Natal
, Veias Umbilicais
, Humanos
, Feminino
, Retardo do Crescimento Fetal/diagnóstico por imagem
, Retardo do Crescimento Fetal/fisiopatologia
, Gravidez
, Estudos Prospectivos
, Estudos Transversais
, Veias Umbilicais/diagnóstico por imagem
, Adulto
, Ultrassonografia Pré-Natal/métodos
, Mesencéfalo/diagnóstico por imagem
, Mesencéfalo/irrigação sanguínea
, Mesencéfalo/embriologia
, Desenvolvimento Fetal/fisiologia
, Córtex Cerebral/diagnóstico por imagem
, Córtex Cerebral/irrigação sanguínea
, Córtex Cerebral/embriologia
RESUMO
INTRODUCTION: Growth-restricted fetuses may have changes in their neuroanatomical structures that can be detected in prenatal imaging. We aim to compare corpus callosal length (CCL) and cerebellar vermian height (CVH) measurements between fetal growth restriction (FGR) and control fetuses and to correlate them with cerebral Doppler velocimetry in growth-restricted fetuses. METHODS: This was a prospective cohort of FGR after 20 weeks of gestation with ultrasound measurements of CCL and CVH. Control cohort was assembled from fetuses without FGR who had growth ultrasound after 20 weeks of gestation. We compared differences of CCL or CVH between FGR and controls. We also tested for the correlations of CCL and CVH with middle cerebral artery (MCA) pulsatility index (PI) and vertebral artery (VA) PI in the FGR group. CCL and CVH measurements were adjusted by head circumference (HC). RESULTS: CCL and CVH were obtained in 68 and 55 fetuses, respectively. CCL/HC was smaller in FGR fetuses when compared to control fetuses (difference = 0.03, 95% CI: [0.02, 0.04], p < 0.001). CVH/HC was larger in FGR fetuses compared to NG fetuses (difference = 0.1, 95% CI: [-0.01, 0.02], p = < 0.001). VA PI multiples of the median were inversely correlated with CVH/HC (rho = -0.53, p = 0.007), while CCL/HC was not correlated with VA PI. Neither CCL/HC nor CVH/HC was correlated with MCA PI. CONCLUSIONS: CCL/HC and CVH/HC measurements show differences in growth-restricted fetuses compared to a control cohort. We also found an inverse relationship between VA PI and CVH/HC. The potential use of neurosonography assessment in FGR assessment requires continued explorations.
Assuntos
Corpo Caloso , Retardo do Crescimento Fetal , Ultrassonografia Pré-Natal , Humanos , Retardo do Crescimento Fetal/diagnóstico por imagem , Retardo do Crescimento Fetal/fisiopatologia , Feminino , Gravidez , Ultrassonografia Pré-Natal/métodos , Estudos Prospectivos , Adulto , Corpo Caloso/diagnóstico por imagem , Corpo Caloso/embriologia , Vermis Cerebelar/diagnóstico por imagem , Artéria Cerebral Média/diagnóstico por imagemRESUMO
GALNT17 encodes a N-acetylgalactosaminyltransferase (GalNAc-T) protein specifically involved in mucin-type O-linked glycosylation of target proteins, a process important for cell adhesion, cell signaling, neurotransmitter activity, neurite outgrowth, and neurite sensing. GALNT17, also known as WBSCR17, is located at the edge of the Williams-Beuren Syndrome (WBS) critical region and adjacent to the AUTS2 locus, genomic regions associated with neurodevelopmental phenotypes that are thought to be co-regulated. Although previous data have implicated Galnt17 in neurodevelopment, the in vivo functions of this gene have not been investigated. In this study, we have analyzed behavioral, brain pathology, and molecular phenotypes exhibited by Galnt17 knockout (Galnt17-/-) mice. We show that Galnt17-/- mutants exhibit developmental neuropathology within the cerebellar vermis, along with abnormal activity, coordination, and social interaction deficits. Transcriptomic and protein analysis revealed reductions in both mucin type O-glycosylation and heparan sulfate synthesis in the developing mutant cerebellum along with disruption of pathways central to neuron differentiation, axon pathfinding, and synaptic signaling, consistent with the mutant neuropathology. These brain and behavioral phenotypes and molecular data confirm a specific role for Galnt17 in brain development and suggest new clues to factors that could contribute to phenotypes in certain WBS and AUTS2 syndrome patients.
Assuntos
Vermis Cerebelar , N-Acetilgalactosaminiltransferases , Animais , Camundongos , Encéfalo/metabolismo , Vermis Cerebelar/metabolismo , Cerebelo/metabolismo , Mucinas/metabolismo , N-Acetilgalactosaminiltransferases/metabolismo , Proteínas/metabolismo , Interação Social , Polipeptídeo N-AcetilgalactosaminiltransferaseRESUMO
Several lines of evidence point towards the involvement of the cerebellum in reactive aggression. In addition to the posterior cerebellar hemisphere, the vermis has been suggested to play a prominent role in impulse regulation. In the present study, we set out to further examine the relationships between cerebellar grey matter volumes, aggression, and impulsivity in 201 healthy volunteers. 3 T structural magnetic resonance imaging scans were acquired to investigate grey matter volumes of the cerebellar vermis and the anterior and posterior lobules. Aggression was assessed with the Buss-Perry Aggression Questionnaire and impulsivity was measured with the Barratt Impulsiveness Scale-11. Results showed that impulsivity was positively associated with grey matter volumes of the cerebellar vermis and inversely correlated with grey matter volumes of the right posterior lobule. In addition, smaller volumes of the right posterior lobules were associated with higher physical aggression. Exploratory analyses indicated that for the right hemisphere, this association was driven by grey matter volumes of lobules VIIb and VIIIa. Our findings provide correlational evidence in healthy volunteers for the involvement of the cerebellar vermis and posterior lobules in a cortico-limbic-cerebellar circuit of aggression.
Assuntos
Cerebelo , Substância Cinzenta , Humanos , Substância Cinzenta/patologia , Voluntários Saudáveis , Cerebelo/patologia , Imageamento por Ressonância Magnética/métodos , Comportamento Impulsivo , AgressãoRESUMO
OBJECTIVE: To assess the role of the choroid plexus (CP) of the fourth ventricle (4V) in fetuses with an open 4V and a normal cerebellar vermis. METHODS: Two groups of patients were recruited in two fetal medicine referral centers. The prospectively collected control group included singleton pregnancies with a normal sonographic examination after first-trimester combined screening for chromosomal abnormalities and normal outcome, recruited in the period between 2019 and 2022. The study group was selected retrospectively by searching our databases to identify all cases with an isolated open 4V and normal anatomy and size of the cerebellar vermis. The inclusion criteria of the study group were: (1) gestational age between 20 and 22 weeks; (2) a brainstem-vermis angle ≥ 18° in the midsagittal plane with an otherwise normal cerebellum and vermis; (3) 4V-CP visible and seen separately from the vermis; (4) absence of other intra- and extracranial anomalies; and (5) available prenatal and/or postnatal magnetic resonance imaging (MRI) data. RESULTS: In 169 cases of the control group, the 4V-CP was seen separately from the cerebellar vermis and was noticed to progressively fill the space caudal to the 4V, between the vermis and brainstem. From 12 to 22 weeks, the surface areas of the vermis and medial portion of the 4V-CP increased progressively with advancing gestation (P < 0.0001). Intra- and interobserver correlation analysis showed good reproducibility for the measurements. Among the cases with an open 4V and a normal vermis, it was retrospectively feasible to visualize the 4V-CP separately from the inferior part of the vermis in 41 fetuses. In five of these cases, the open 4V was due to a small CP. In all 41 fetuses, the diagnosis on MRI was isolated upward rotation of the cerebellar vermis, and no additional anomaly was found. CONCLUSIONS: Closure of the 4V is dependent on the 4V-CP and not only the cerebellar vermis. In fact, a small CP may represent another cause of an open 4V. Therefore, separate visualization of the 4V-CP and cerebellar vermis is crucial to improve discrimination between the different causes of an open 4V at the anomaly scan and its clinical implications. © 2023 International Society of Ultrasound in Obstetrics and Gynecology.
Assuntos
Plexo Corióideo , Quarto Ventrículo , Feminino , Gravidez , Humanos , Lactente , Quarto Ventrículo/diagnóstico por imagem , Plexo Corióideo/diagnóstico por imagem , Estudos Retrospectivos , Reprodutibilidade dos Testes , Ultrassonografia Pré-Natal/métodos , Diagnóstico Pré-Natal , Idade Gestacional , Imageamento por Ressonância Magnética/métodosRESUMO
Maternally inherited diabetes and deafness (MIDD) is a rare diabetic syndrome mainly caused by a point mutation in the mitochondrial DNA. It affects up to 1% of patients with diabetes but is often unrecognized by physicians. We report a case of MIDD in a 29-year-old man with coexisting imaging of cerebellar vermis hypoplasia and bilateral basal ganglia calcification.
Assuntos
Doenças dos Gânglios da Base , Vermis Cerebelar , Surdez , Diabetes Mellitus Tipo 2 , Doenças Mitocondriais , Masculino , Humanos , Adulto , Diabetes Mellitus Tipo 2/complicações , Surdez/diagnóstico por imagem , Surdez/genética , Surdez/complicações , Doenças Mitocondriais/complicações , DNA Mitocondrial/genética , Doenças dos Gânglios da Base/complicações , Doenças dos Gânglios da Base/diagnóstico por imagem , Doenças dos Gânglios da Base/genética , Gânglios da Base/diagnóstico por imagemRESUMO
AIM: To find out the relative incidence and outcome of posterior fossa abnormality (PFA) in terms of survival at birth until 2 years of age. METHODS: We conducted a prospective study; all fetuses diagnosed with posterior fossa abnormality were followed-up. The outcome was observed with respect to survival, the presence of associated anomalies, the existence of developmental delay after a telephonic interview. RESULTS: Out of 2703 children with congenital anomalies, 921 (34.1%) had a central nervous system defect; 76 cases of PFA were fully followed. Dandy-Walker malformation (DWM) was present in 50% (38/76), mega cisterna magna 18.4% (14/76), Blake pouch cyst 13.2% (10/76), vermian hypoplasia (VH) 13.2% (10/76) and arachnoid cyst 5.2% (4/76). The diagnosis was possible before 20 weeks in only 12 (15.8%) cases. The mean gestational age at delivery was 34.7 ± 6.7 weeks. Associated anomalies were seen in 35/76 (46.1%) cases. A total of 35/76 (46.1%) survived after 2 years; there was developmental delay in 9.2% of cases. CONCLUSION: There is a large variation in the outcome of PFA depending upon the type of anomaly. Associated anomalies are common in VH and DWM, making their prognosis worse.
Assuntos
Cistos , Síndrome de Dandy-Walker , Feminino , Recém-Nascido , Criança , Humanos , Lactente , Prevalência , Estudos Prospectivos , Imageamento por Ressonância Magnética/métodos , Síndrome de Dandy-Walker/epidemiologia , Síndrome de Dandy-Walker/diagnóstico , Síndrome de Dandy-Walker/genética , FetoRESUMO
BACKGROUND: Prenatal diagnoses of cystic malformations of the posterior fossa mainly encompass arachnoid cysts, Blake's pouch cysts and Dandy-Walker syndrome. To date, vermian cysts have not been reported prenatally. OBJECTIVES: To report a series of fetuses with a vermian cyst. MATERIALS AND METHODS: This was a single-center retrospective study conducted from 2012 to 2021. We included all fetuses presenting with a vermian cyst and excluded all other types of posterior fossa cyst. The cyst was visible at prenatal ultrasound (US) and/or magnetic resonance imaging (MRI). Postnatal imaging and/or clinical outcome data were available. RESULTS: Sixteen fetuses fulfilled the inclusion criteria with a strong female predominance (n=13). US and MRI were performed at a mean gestational age of 29+5 and 33+1 weeks, respectively. In all patients, the cyst was in the vermian horizontal fissure. The mean longest dimension was about 10 mm. The vermis and other posterior fossa structures were otherwise normal. At postnatal imaging, 13 children underwent brain imaging including 11 MRIs with complete regression (n=9), stability (n=1) and increase in size (n=3) of the cyst. Psychomotor development was normal in 14 children. One child (with an inner ear malformation) showed a slight delay in walking and language acquisition. Slight walking ataxia was present in another child. CONCLUSION: We report 16 fetuses with posterior fossa cysts located within the vermis at the level of the horizontal fissure, diagnosed at US and/or MRI and carrying an overall excellent neurological prognosis.
Assuntos
Cistos , Síndrome de Dandy-Walker , Malformações do Sistema Nervoso , Gravidez , Criança , Humanos , Feminino , Lactente , Masculino , Estudos Retrospectivos , Diagnóstico Pré-Natal/métodos , Síndrome de Dandy-Walker/diagnóstico , Síndrome de Dandy-Walker/patologia , Fossa Craniana Posterior/anormalidades , Fossa Craniana Posterior/diagnóstico por imagem , Fossa Craniana Posterior/patologia , Imageamento por Ressonância Magnética/métodos , Ultrassonografia Pré-Natal/métodosRESUMO
The cerebellar posterior vermis generates an estimation of our motion (translation) and orientation (tilt) in space using cues originating from semicircular canals and otolith organs. Theoretical work has laid out the basic computations necessary for this signal transformation, but details on the cellular loci and mechanisms responsible are lacking. Using a multicomponent modeling approach, we show that canal and otolith information are spatially and temporally matched in mouse posterior vermis Purkinje cells and that Purkinje cell responses combine translation and tilt information. Purkinje cell-specific inhibition of protein kinase C decreased and phase-shifted the translation component of Purkinje cell responses, but did not affect the tilt component. Our findings suggest that translation and tilt signals reach Purkinje cells via separate information pathways and that protein kinase C-dependent mechanisms regulate translation information processing in cerebellar cortex output neurons.
Assuntos
Vermis Cerebelar/fisiologia , Membrana dos Otólitos/fisiologia , Proteína Quinase C/metabolismo , Células de Purkinje/metabolismo , Animais , Córtex Cerebelar , Camundongos , Camundongos Endogâmicos C57BL , Modelos Animais , Plasticidade NeuronalRESUMO
OBJECTIVE: To evaluate brain biometry and cortical development by neurosonography in fetuses with congenital heart defect (CHD) and evaluate differences among different type of CHD. METHODS: In a prospective cross sectional study singleton fetus with CHD were matched with controls and grouped into two categories according to the predicted severity of cerebral arterial oxygen deficit induced by the CHD: Group A mildly reduced or normal and Group B moderately to severely reduced. Neurosonography was done at 30-33 weeks to obtain measurements of corpus callosum (CC), cerebellar vermis (CV), Sylvian fissure (SF) insula, parieto-occipital fissure (POF), and calcarine sulci fissures (CSF). All the neurosonographic parameters were adjusted by head circumference (HC). RESULTS: A total of 78 fetuses with CHD (group A 30; group B 48) and 80 matched controls form uncomplicated pregnancies were considered. CHD fetuses have significantly smaller CC, CV, SF, and POF and bigger insula when compared to control fetuses. These differences are more marked in group B fetuses. These differences remained significant after correction for HC values. CONCLUSION: Fetuses with CHD have an impaired cortical development and these variations are more evident in those with a predicted lower oxygen delivery to the brain.
Assuntos
Cardiopatias Congênitas , Gravidez , Feminino , Humanos , Estudos Transversais , Estudos Prospectivos , Cardiopatias Congênitas/diagnóstico por imagem , Cardiopatias Congênitas/complicações , Encéfalo , Feto , Biometria , Artéria Cerebral Média/diagnóstico por imagem , Ultrassonografia Pré-Natal , Oxigênio , Desenvolvimento Fetal , Idade GestacionalRESUMO
Recent studies suggest that the cerebellum may have a significant role in repetitive behaviors. In primary complex motor stereotypies, typically developing children have repetitive movements usually involving rhythmic flapping/waving arm/hand movements. Similarly, the deer mouse animal model exhibits inherited repetitive behaviors, with increased frequencies of spontaneous jumping and rearing. In this study, data from both children with motor stereotypies and deer mice were used to investigate the role of the cerebellum in repetitive behaviors. The 3.0-T MRI volumetric imaging of the cerebellum was obtained in 20 children with primary complex motor stereotypies and 20 healthy controls. In deer mice, cerebellar volume (n = 7/group) and cell counts (n = 9/group) were compared between high- and low-activity animals. Levels of cerebellar neurotransmitters were also determined via HPLC (n = 10/group). In children with stereotypies, (a) there were a statistically significant reduction (compared to controls) in the white matter volume of the posterior cerebellar lobule VI-VII that negatively correlated with motor control and (b) an 8% increase in the anterior vermis gray matter that positively correlated with motor Stereotypy Severity Scores (SSS). In deer mice, (a) there was a significant increase in the volume of the anterior vermal granular cell layer that was associated with higher activity and (b) dentate nucleus cell counts were higher in high activity animals. Similar increases in volume were observed in anterior vermis in children with stereotypies and a deer mouse model of repetitive behaviors. These preliminary findings support the need for further investigation of the cerebellum in repetitive behaviors.
Assuntos
Peromyscus , Comportamento Estereotipado , Animais , Cerebelo/diagnóstico por imagem , Córtex Cerebral , Criança , Cognição , HumanosRESUMO
Bimanual coordination is an important part of everyday life and recruits a large neural network, including the cerebellum. The specific role of the cerebellum in bimanual coordination has not yet been studied in depth, although several studies indicate a differential role of the anterior and posterior cerebellum depending on the complexity of the coordination. An activation likelihood estimation (ALE) meta-analysis was used combining the data of several functional MRI studies involving bimanual coordination tasks with varying complexities to unravel the involvement of the different areas of the cerebellum in simple and complex bimanual coordination. This study confirms the general bimanual network as found by Puttemans et al. (Puttemans et al. in J Neurosci 25:4270-4278, 2005) and highlights the differences between preferred in-phase (simultaneous movements of homologous muscle groups) and anti-phase movement conditions (alternating movements of homologous muscle groups), and more complex, non-preferred bimanual movements (e.g., out-of-phase movements). Our results show a differential role for the anterior and posterior vermis in bimanual coordination, with a role for the anterior vermis in anti-phase and complex bimanual coordination, and an exclusive role for the posterior vermis in complex bimanual movements. In addition, the way complexity was manipulated also seems to play a role in the involvement of the anterior and posterior vermis. We hypothesize that the anterior vermis is involved in sequential/spatial control, while the posterior vermis is involved in temporal control of (bimanual) coordination, though other factors such as (visual) feedback and continuity of the movement also seem to have an impact. More studies are needed to unravel the specific role of the cerebellar vermis in bimanual coordination.
Assuntos
Mapeamento Encefálico , Lateralidade Funcional , Lateralidade Funcional/fisiologia , Funções Verossimilhança , Cerebelo/diagnóstico por imagem , Cerebelo/fisiologia , Movimento/fisiologia , Desempenho Psicomotor/fisiologiaRESUMO
BACKGROUND: Basal ganglia and cerebellum are structurally and functionally connected in animals. In humans, tractography and seed-based functional connectivity have confirmed this cerebellar-striatal relation. Independent component analysis (ICA) showed that both cerebellum and basal ganglia take part in distinct intrinsic networks. METHODS: Probabilistic ICA analysis was applied to the brain images of 15 healthy volunteers during the resting state and using a 3 T MRI. RESULTS: A spatial map corresponding to dorsal and ventral basal ganglia circuits was also found to be in functional coherence with crus 2, especially with its vermal region. CONCLUSION: It is speculated that such cerebellar-basal ganglionic rsFC could reflect structural interconnections traced in animals and explain reward-based activity detected in the cerebellum.