BACKGROUND: Cerebellar alterations, including both volumetric changes in the cerebellar vermis and dysfunctions of the corticocerebellar connections, have been documented in psychotic disorders. Starting from the clinical observation of a bipolar patient with cerebellar hypoplasia, the purpose of this review is to summarize the data in the literature about the association between hypoplasia of the cerebellar vermis and psychotic disorders [schizophrenia (SCZ) and bipolar disorder (BD)].
METHODS: A bibliographic search on PubMed has been conducted, and 18 articles were finally included in the review: five used patients with BD, 12 patients with SCZ and one subject at psychotic risk.
RESULTS: For SCZ patients and subjects at psychotic risk, the results of most of the reviewed studies seem to suggest a gray matter volume reduction coupled with an increase in white matter volumes in the cerebellar vermis, compared to healthy controls. Instead, the results of the studies on BD patients are more heterogeneous with evidence showing a reduction, no difference or even an increase in cerebellar vermis volume compared to healthy controls.
CONCLUSIONS: From the results of the reviewed studies, a possible correlation emerged between cerebellar vermis hypoplasia and psychotic disorders, especially SCZ, ultimately supporting the hypothesis of psychotic disorders as neurodevelopmental disorders.

UNASSIGNED: Cerebellar structural and functional abnormalities underlie widespread deficits in clinical, cognitive, and motor functioning that are observed in schizophrenia. Consequently, the cerebellum is a promising target for novel schizophrenia treatments. Here we conducted an updated systematic review examining the literature on cerebellar stimulation efficacy and tolerability for mitigating symptoms of schizophrenia. We discuss the purported mechanisms of cerebellar stimulation, current methods for implementing stimulation, and future directions of cerebellar stimulation for intervention development with this population.
UNASSIGNED: Two independent authors identified 20 published studies (7 randomized controlled trials, 7 open-label studies, 1 pilot study, 4 case reports, 1 preclinical study) that describe the effects of cerebellar circuitry modulation in patients with schizophrenia or animal models of psychosis. Published studies up to October 11, 2022 were identified from a search within PubMed, Scopus, and PsycInfo.
UNASSIGNED: Most studies stimulating the cerebellum used transcranial magnetic stimulation or transcranial direct-current stimulation, specifically targeting the cerebellar vermis/midline. Accounting for levels of methodological rigor across studies, these studies detected post-cerebellar modulation in schizophrenia as indicated by the alleviation of certain clinical symptoms (mainly negative and depressive symptoms), as well as increased frontal-cerebellar connectivity and augmentation of canonical neuro-oscillations known to be abnormal in schizophrenia. In contrast to a prior review, we did not find consistent evidence for cognitive improvements following cerebellar modulation stimulation. Modern cerebellar stimulation methods appear tolerable for individuals with schizophrenia, with only mild and temporary side effects.
UNASSIGNED: Cerebellar stimulation is a promising intervention for individuals with schizophrenia that may be more relevant to some symptom domains than others. Initial results highlight the need for continued research using more methodologically rigorous designs, such as additional longitudinal and randomized controlled trials.
UNASSIGNED: [https://www.crd.york.ac.uk/prospero/], identifier [CRD42022346667].

The clinical features of cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis (COACH) characterize the rare autosomal recessive multisystem disorder called COACH syndrome. COACH syndrome belongs to the spectrum of Joubert syndrome and related disorders (JSRDs) and liver involvement distinguishes COACH syndrome from the rest of the JSRD spectrum. Developmental delay and oculomotor apraxia occur early but with time, these can improve and may not be readily apparent or no longer need active medical management. Congenital hepatic fibrosis and renal disease, on the other hand, may develop late, and the temporal incongruity in organ system involvement may delay the recognition of COACH syndrome. We present a case of a young adult presenting late to a Renal Genetics Clinic for evaluation of renal cystic disease with congenital hepatic fibrosis, clinically suspected to have autosomal recessive polycystic kidney disease. Following genetic testing, a reevaluation of his medical records from infancy, together with reverse phenotyping and genetic phasing, led to a diagnosis of COACH syndrome.

The cerebellum\'s role in affective processing is increasingly recognized in the literature, but remains poorly understood, despite abundant clinical evidence for affective disruptions following cerebellar damage. To improve the characterization of emotion processing and investigate how attention allocation impacts this processing, we conducted a meta-analysis on task activation foci using GingerALE software. Eighty human neuroimaging studies of emotion including 2761 participants identified through Web of Science and ProQuest databases were analyzed collectively and then divided into two categories based on the focus of attention during the task: explicit or implicit emotion processing. The results examining the explicit emotion tasks identified clusters within the posterior cerebellar hemispheres (bilateral lobule VI/Crus I/II), the vermis, and left lobule V/VI that were likely to be activated across studies, while implicit tasks activated clusters including bilateral lobules VI/Crus I/II, right Crus II/lobule VIII, anterior lobule VI, and lobules I-IV/V. A direct comparison between these categories revealed five overlapping clusters in right lobules VI/Crus I/Crus II and left lobules V/VI/Crus I of the cerebellum common to both the explicit and implicit task contrasts. There were also three clusters activated significantly more for explicit emotion tasks compared to implicit tasks (right lobule VI, left lobule VI/vermis), and one cluster activated more for implicit than explicit tasks (left lobule VI). These findings support previous studies indicating affective processing activates both the lateral hemispheric lobules and the vermis of the cerebellum. The common and distinct activation of posterior cerebellar regions by tasks with explicit and implicit attention demonstrates the supportive role of this structure in recognizing, appraising, and reacting to emotional stimuli.

Dandy-Walker syndrome (DWS) is a group of brain malformations which sometimes present with psychotic symptoms. We present the case of a patient diagnosed with Dandy-Walker variant who presented with schizophrenia-like psychosis. A man in his 30s was admitted to an acute psychiatric unit presenting with persecutory delusions, auditory hallucinations and violent behaviour. The MRI performed showed the typical alterations of Dandy-Walker variant: vermian hypoplasia and cystic dilatation of the fourth ventricle. He also suffered from mild intellectual disability. After being treated with olanzapine 10 mg/d for a month, his psychotic symptoms greatly improved and he was discharged. In conclusion, DWS may cause psychosis through a dysfunction in the circuit connecting prefrontal, thalamic and cerebellar areas. The association between these two conditions may contribute to the understanding of the aetiopathogenesis of schizophrenia.

OBJECTIVE:  To conduct a systematic review and meta-analysis of published nomograms for fetal vermis biometry.
METHODS:  A structured literature search was conducted to identify studies that reported normal measurements of the fetal vermis. A customized quality assessment tool was used to review the selected articles. Random effects meta-analysis was used to calculate normal ranges for vermian craniocaudal diameter, anteroposterior diameter, and surface area.
RESULTS:  A total of 21 studies were included for qualitative review and 3 studies were included for quantitative synthesis. The 3 included articles comprised a total of 10 910 measurements from gestational ages 17-35 weeks. The quality assessment demonstrated that there was generally poor reporting regarding maternal characteristics and neonatal outcomes. Except for one article with a large sample size, the mean number of fetuses per week of gestational age was 15.9, with the lowest number being 5. There was significant statistical heterogeneity. Non-visualization rates ranged from 0-35.4 %. The craniocaudal diameter (reported in 3 articles) increased from a mean of 7.90 mm (95 % confidence interval [CI] 7.42, 8.38) at 17 weeks to 21.90 mm (95 % CI 20.63, 23.16) at 35 weeks gestation. The anteroposterior diameter (reported in 2 articles) increased from 6.30 mm (95 % CI 5.42, 7.18) at 17 weeks to 15.85 (95 %CI 15.49, 16.21) at 32 weeks.
CONCLUSIONS:  Reference ranges for vermis biometry across gestation based on meta-analysis of existing references are provided. However, because many of the underlying studies suffered from significant methodological issues, the ranges should be used with caution.
ZIEL:  Durchführung eines systematischen Reviews und Metaanalyse veröffentlichter Nomogramme für die Biometrie des fetalen Vermis cerebelli.
METHODS:  Eine strukturierte Literaturrecherche wurde durchgeführt, um Studien zu identifizieren, die über normale Messungen des fetalen Vermis berichteten. Ein angepasstes Qualitätsbewertungs-Tool wurde verwendet, um die ausgewählten Artikel zu überprüfen. Eine Metaanalyse mit Random Effects wurde angewandt, um Normalbereiche für den kraniokaudalen Durchmesser des Vermis, den anteroposterioren Durchmesser und die Oberfläche zu berechnen.
UNASSIGNED:  Insgesamt wurden 21 Studien zur qualitativen Überprüfung und 3 Studien zur quantitativen Synthese eingeschlossen. Die 3 eingeschlossenen Artikel umfassten insgesamt 10 910 Messungen von der 17.–35. SSW. Die Qualitätsbewertung zeigte, dass es im Allgemeinen eine schlechte Berichterstattung bezüglich mütterlicher Charakteristiken und des neonatalen Outcomes gab. Mit Ausnahme eines Artikels mit großer Stichprobengröße betrug die durchschnittliche Anzahl der Föten pro SSW 15,9, wobei die niedrigste Anzahl 5 betrug. Es gab eine signifikante statistische Heterogenität. Die Raten für Nichtdarstellbarkeit lagen zwischen 0 und 35,4 %. Der kraniokaudale Durchmesser (in 3 Artikeln angegeben) stieg von durchschnittlich 7,90 mm (95 %-Konfidenzintervall (KI) 7,42–8,38) in der 17. SSW auf 21,90 mm (95 %-KI 20,63–23,16) in der 35. SSW. Der anteroposteriore Durchmesser (in 2 Artikeln angegeben) stieg von 6,30 mm (95 %-KI 5,42–7,18) in der 17. SSW auf 15,85 mm (95 %-KI 15,49–16,21) in der 32. SSW.
UNASSIGNED:  Basierend auf einer Metaanalyse bestehender Literatur werden Referenzbereiche für die Biometrie des Vermis nach Schwangerschaftsalter angegeben. Da jedoch viele der zugrunde liegenden Studien unter erheblichen methodischen Problemen litten, sollten diese Bereiche mit Vorsicht angewandt werden.

UNASSIGNED: Cerebellar dysplasia with cysts (CDC) is an imaging finding which is typically seen with in individuals with dystroglycanopathy. One of the diseases causing this condition is \"Poretti-Boltshauser Syndrome; PTBHS\" (OMIM #615960). Homozygous or compound heterozygous mutations in the LAMA1 gene cause this disease.
UNASSIGNED: 7 years old twin siblings consulted to the medical genetics department because of walking problems and cerebellar examination findings.
UNASSIGNED: Clinical and radiological findings of the patient suggested a syndrome with recessive inheritance. Whole exome sequencing (WES) test was performed for definitive diagnosis. As a result of the patient\'s WES analysis, a homozygous mutation was detected in the LAMA1 gene.
UNASSIGNED: When determining the inheritance pattern of genetic diseases, if parents have consanquinity, this situation leads us to recessive inheritance diseases. Even if we are not consanquinity, but they say the same village, it is necessary to pay attention to the diseases of the recessive group. Whole exome sequencing analysis results in large amount of data generation. A good clinical evaluation is required to detect the mutation as a result of large data. To understand what we have found, we need to know what we are looking for.

BACKGROUND: Dandy-Walker Syndrome (DWS) is a rare congenital brain malformation characterized by underdevelopment of cerebellar vermis and cystic enlargement of the fourth ventricle and enlargement of the posterior fossa. The cooccurrence of DWS and syringomyelia in adults is very rare.
METHODS: We report a man aged 19 years who presented with a 2-year history of tremor. Magnetic resonance imaging showed cystic dilation of the fourth ventricle, hypoplasia of the cerebellar vermis, and syringomyelia. Posterior fossa decompression and spinal cord ostomy were performed. Tremor was markedly improved and the fourth ventricular and the syringomyelia were reduced in size postoperatively.
CONCLUSIONS: Tremor can be a clinical manifestation in patients of DWS concomitant with syringomyelia in adults. Spinal cord ostomy combined with posterior fossa decompression may be an effective approach for alleviation of symptoms and syringomyelia.