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2.
Cytogenet Genome Res ; 159(3): 130-136, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31715598

RESUMO

We report on a female patient who presented with severe intellectual disability and autistic behavior, dysmorphic features, orodental anomalies, and bilateral calcification of basal ganglia. Using a high-density oligonucleotide microarray, we have identified a de novo duplication of 11q13.1q22.1 involving the dosage sensitive genes FGF3 and FGF4, genes related to autosomal dominant disorders KMT5B, GAL, SPTBN2, and LRP5, susceptibility loci SCZD2, SLEH1, and SHANK2, mitochondrial genes NDUFV1, NDUFS8, and TMEM126B, and many loss of function genes, including PHOX2A, CLPB, MED17, B3GNT1, LIPT2, and CLPB. However, the duplication did not involve Ribonuclease H2, subunit C (RNASEH2C) which is considered to be located in the critical region for Aicardi-Goutières syndrome. In combination with the duplication at 11q13.1, a 1.849-Mb heterozygous duplication at 4q35.2 was also identified. Although this duplicated region does not contain causative genes related to brain calcification, the duplication at 4q35 was reported previously in a patient with basal ganglia calcification, coats' like retinopathy, and glomerulosclerosis. Our patient's presentation and genomic findings indicate that duplication of 4q35.2 could be a novel genetic cause of calcification of basal ganglia. Our report also underscores the clinical significance of rearrangements in 11q13.1q22.1 in the pathogenesis of basal ganglia calcification.


Assuntos
Gânglios da Base/patologia , Calcinose/genética , Duplicação Cromossômica , Cromossomos Humanos Par 11 , Cromossomos Humanos Par 4 , Fenótipo , Criança , Bandeamento Cromossômico , Feminino , Humanos , Cariotipagem
4.
BMC Neurol ; 19(1): 230, 2019 Sep 26.
Artigo em Inglês | MEDLINE | ID: mdl-31558152

RESUMO

BACKGROUND: Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is a severe and most common autoimmune encephalitis in patients under 40 years old. Anti-NMDAR encephalitis has various clinical and neuroimaging findings. Here we report a special case of an anti-NMDAR encephalitis who had diffuse lesions in bilateral hemispheres with mild mass effects in left basal ganglia area. CASE PRESENTATIONS: A 28-year-old female anti-NMDAR encephalitis patient mainly presented with headache and fever. Brain magnetic resonance image (MRI) showed slightly contrasted diffuse lesions, involving the left temporal and frontal lobes, left basal ganglia area and splenium of corpus callosum, as well as the right frontal lobe, with mild edema surrounded in the left basal ganglia area. Cerebrospinal fluid (CSF) revealed a moderate pleocytosis with normal protein and glucose levels. Anti-NMDAR antibodies were identified in CSF. Transvaginal ovarian ultrasound did not reveal an ovarian teratoma. The patient was treated with immunoglobulin and steroid, and had a good recovery. CONCLUSIONS: Anti-NMDAR encephalitis has no special clinical manifestations and brain MRI is highly variable, which could be unremarkable or abnormal involving white and grey matters. The extensive lesions in frontal and temporal lobes, and basal ganglia area, with mild mass effects, have not been described previously. Recognition of various changes in brain MRI will enable the early detection of anti-NMDAR antibody and then effective treatments.


Assuntos
Encefalite Antirreceptor de N-Metil-D-Aspartato/diagnóstico , Encefalite Antirreceptor de N-Metil-D-Aspartato/patologia , Gânglios da Base/patologia , Lobo Frontal/patologia , Lobo Temporal/patologia , Adulto , Gânglios da Base/diagnóstico por imagem , Feminino , Lobo Frontal/diagnóstico por imagem , Humanos , Lobo Temporal/diagnóstico por imagem
5.
Elife ; 82019 08 12.
Artigo em Inglês | MEDLINE | ID: mdl-31403401

RESUMO

Mitochondrial deficits in energy production cause untreatable and fatal pathologies known as mitochondrial disease (MD). Central nervous system affectation is critical in Leigh Syndrome (LS), a common MD presentation, leading to motor and respiratory deficits, seizures and premature death. However, only specific neuronal populations are affected. Furthermore, their molecular identity and their contribution to the disease remains unknown. Here, using a mouse model of LS lacking the mitochondrial complex I subunit Ndufs4, we dissect the critical role of genetically-defined neuronal populations in LS progression. Ndufs4 inactivation in Vglut2-expressing glutamatergic neurons leads to decreased neuronal firing, brainstem inflammation, motor and respiratory deficits, and early death. In contrast, Ndufs4 deletion in GABAergic neurons causes basal ganglia inflammation without motor or respiratory involvement, but accompanied by hypothermia and severe epileptic seizures preceding death. These results provide novel insight in the cell type-specific contribution to the pathology, dissecting the underlying cellular mechanisms of MD.


Assuntos
Doença de Leigh/patologia , Doença de Leigh/fisiopatologia , Doenças Mitocondriais/patologia , Doenças Mitocondriais/fisiopatologia , Neurônios/patologia , Animais , Gânglios da Base/patologia , Tronco Encefálico/patologia , Modelos Animais de Doenças , Progressão da Doença , Complexo I de Transporte de Elétrons/deficiência , Camundongos , Fenótipo
6.
Eur J Radiol ; 118: 271-276, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31439254

RESUMO

PURPOSE: To characterize the orifices of lenticulostriate arteries (LSAs) in vivo by using three-dimensional (3D) time-of-flight magnetic resonance angiography (TOF-MRA) and to investigate the spatial relationship between LSA orifices and atherosclerotic plaques in patients with lacunar infarcts (LI). METHOD: Seventeen healthy volunteers and fifteen patients with LI underwent 3D TOF-MRA and 3D vessel wall imaging (VWI) at 7 T. The orifices of LSAs and the locations of atherosclerotic plaques on MCA walls were categorized based on the involvement of the superior, inferior, ventral or dorsal sides of MCA wall. The distribution quadrants of LSA orifices on MCA walls were compared among different groups. RESULTS: Most orifices were located on the superior side of MCA firstly (46 of 95, 48.4%), followed by the dorsal side (22 of 95, 23.2%). In patients with LI, the visible numbers of ventral and inferior orifices on the ipsilateral side were significantly lower than healthy controls (p = 0.039 for ventral side, p = 0.002 for inferior side). Similarly, plaques occurred more frequently at the ventral (7 of 20, 35.0%) and the inferior (7 of 20, 35.0%) sides of MCA walls. CONCLUSIONS: TOF-MRA at 7 T is capable of imaging orifices of LSA on MCA. In patients with LI, the decreased number of LSA orifices on the ventral and inferior sides corresponded with the distribution of MCA plaques. The results may indicate the vulnerability of LSA orifices in intracranial atherosclerosis, which was supposed to be the cause of LI in basal ganglia.


Assuntos
Arteriosclerose Intracraniana/patologia , Angiografia por Ressonância Magnética/métodos , Placa Aterosclerótica/patologia , Acidente Vascular Cerebral Lacunar/patologia , Adolescente , Adulto , Idoso , Gânglios da Base/patologia , Feminino , Voluntários Saudáveis , Humanos , Imageamento Tridimensional , Masculino , Pessoa de Meia-Idade , Artéria Cerebral Média/patologia , Adulto Jovem
7.
Neurology ; 93(8): e815-e822, 2019 08 20.
Artigo em Inglês | MEDLINE | ID: mdl-31315972

RESUMO

OBJECTIVE: To describe a novel antibody biomarker of neurologic paraneoplastic autoimmunity specific for phosphodiesterase 10A (PDE10A), a striatum-enriched phosphodiesterase, and to characterize the clinical phenotype of patients with PDE10A immunoglobulin G (IgG). METHODS: We describe 7 patients with autoantibodies specific for PDE10A identified in the Mayo Clinic Neuroimmunology Laboratory. Patient specimens (sera, 7; CSF, 4) produced identical basal ganglia-predominant synaptic staining of murine brain tissue by indirect immunofluorescence. The autoantigen was identified by immunoprecipitation and mass spectrometry as PDE10A, and confirmed by antigen-specific recombinant Western blot and cell-based assays, and immune absorption experiments. RESULTS: The median patient age was 70 years (range 66-76); 4 were men. Four patients with clinical information available had movement disorders (hyperkinetic in 3 [chorea, ballismus, dystonia] and parkinsonism in 1). All patients but one had cancer (lung [adenocarcinoma 1, squamous cell carcinoma 1, poorly differentiated mesenchymal carcinoma 1], renal adenocarcinoma 2, and pancreatic adenocarcinoma 1). Two of the 7 patients developed hyperkinetic movement disorders during treatment with immune checkpoint inhibitors (nivolumab and pembrolizumab), though none of 26 cancer control patients treated with immune checkpoint inhibitors harbored PDE10A IgG in their serum. MRIs from those 2 patients with hyperkinetic movement disorders demonstrated fluid-attenuated inversion recovery/T2 basal ganglia hyperintensities, and their CSF harbored unique oligoclonal bands. One of those 2 patients had substantial improvement after corticosteroids. One patient's renal adenocarcinoma expressed PDE10A by immunohistochemistry. CONCLUSIONS: PDE10A IgG defines a novel rare neurologic autoimmune syndrome and expands the spectrum of diagnosable paraneoplastic CNS disorders. The intracellular location of PDE10A suggests a T-cell-mediated pathology targeting cells displaying MHC1-bound PDE10A peptides.


Assuntos
Autoimunidade/imunologia , Imunoglobulina G/sangue , Imunoglobulina G/líquido cefalorraquidiano , Síndromes Paraneoplásicas/imunologia , Diester Fosfórico Hidrolases/imunologia , Idoso , Autoanticorpos/sangue , Autoanticorpos/líquido cefalorraquidiano , Gânglios da Base/patologia , Biomarcadores/sangue , Biomarcadores/líquido cefalorraquidiano , Feminino , Humanos , Imagem por Ressonância Magnética , Masculino , Transtornos dos Movimentos/imunologia , Neoplasias/imunologia , Neuroimagem , Síndromes Paraneoplásicas/sangue , Síndromes Paraneoplásicas/líquido cefalorraquidiano
8.
Int Rev Neurobiol ; 146: 229-257, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31349929

RESUMO

The basal ganglia (BG), an organized network of nuclei that integrates cortical information, play a crucial role in controlling motor function. In fact, movement disorders such as Parkinson's disease (PD) and Huntington's disease (HD) are caused by the degeneration of specific structures within the BG. There is substantial evidence supporting the idea that cannabinoids may constitute novel promising compounds for the treatment of movement disorders as neuroprotective and anti-inflammatory agents. This potential therapeutic role of cannabinoids is based, among other qualities, on their capacity to reduce oxidative injury and excitotoxicity, control calcium influx and limit the toxicity of reactive microglia. The mechanisms involved in these effects are related to CB1 and CB2 receptor activation, although some of the effects are CB receptor independent. Thus, taking into account the aforementioned properties, compounds that act on the endocannabinoid system could be useful as a basis for developing disease-modifying therapies for PD and HD.


Assuntos
Canabinoides/uso terapêutico , Endocanabinoides/fisiologia , Doença de Huntington/tratamento farmacológico , Fármacos Neuroprotetores/uso terapêutico , Doença de Parkinson/tratamento farmacológico , Animais , Gânglios da Base/patologia , Gânglios da Base/fisiologia , Canabinoides/farmacologia , Endocanabinoides/uso terapêutico , Humanos , Doença de Huntington/patologia , Fármacos Neuroprotetores/farmacologia , Doença de Parkinson/patologia
9.
Lakartidningen ; 1162019 Mar 26.
Artigo em Sueco | MEDLINE | ID: mdl-31192395

RESUMO

We present a case of hemichorea/hemiballism, a rare complication of hyperglycemia. Diagnosis is made clinically by signs of unilateral involuntary movements of the extremities combined with typical neuroradiological findings in the basal ganglia. Guidelines for treatment of the condition are lacking but in many cases correction for hyperglycemia is sufficient for full symptom relief. In other cases, symptomatic treatment with haloperidol and tetrabenazine can be used.


Assuntos
Coreia/etiologia , Discinesias/etiologia , Hiperglicemia/complicações , Idoso de 80 Anos ou mais , Antidiscinéticos/uso terapêutico , Gânglios da Base/diagnóstico por imagem , Gânglios da Base/patologia , Coreia/tratamento farmacológico , Discinesias/tratamento farmacológico , Feminino , Haloperidol/uso terapêutico , Humanos , Hiperglicemia/diagnóstico por imagem , Hiperglicemia/terapia , Imagem por Ressonância Magnética , Tomografia Computadorizada por Raios X
10.
J Craniofac Surg ; 30(4): e306-e308, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31166274

RESUMO

Basal ganglionic germinoma (BGG) with syncytiotrophoblastic giant cells (STGC) is a rare type of ectopic germ cell tumors with mild elevation of human chorionic gonadotropin level. Intratumoral hemorrhage is not uncommon for BGG, but presenting with repeated hemorrhage is very rare. Herein, we described an extremely rare case of BGG with STGC mimicking a growing hematoma. Furthermore, the characteristics, treatment, and prognosis of BGG with STGC were investigated and reviewed.


Assuntos
Hemorragia dos Gânglios da Base/patologia , Gânglios da Base/patologia , Neoplasias Encefálicas/patologia , Germinoma/patologia , Hematoma/patologia , Diagnóstico Diferencial , Feminino , Células Gigantes/patologia , Humanos , Masculino , Paresia/etiologia , Prognóstico , Recidiva , Trofoblastos/patologia
11.
Eur Radiol ; 29(12): 6634-6642, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31139970

RESUMO

OBJECTIVES: We investigated changes in gray matter (GM) and white matter (WM) in the whole brain, including both cortical and subcortical structures, and their relationship with tremor severity, psychiatric symptoms, and cognitive impairment in patients affected by essential tremor (ET). METHODS: We studied 19 ET patients and 15 healthy subjects (HS). All the subjects underwent a 3-T MRI study based on 3D-T1 and diffusion tensor images. For the GM analysis, cortical thickness was assessed by using the Computational Anatomy Tool, basal ganglia and thalamus volumes by using the FMRIB software library, and cerebellum lobular volumes by using the spatial unbiased atlas template. For the WM assessment, we performed a voxel-wise analysis by means of tract-based spatial statistics. Patients' tremor severity and psychiatric and cognitive disorders were evaluated by means of standard clinical scales. Neuroimaging data were correlated with clinical scores. RESULTS: We found significantly smaller right and left thalamic volumes in ET patients than in HS, which correlated with cognitive scores. We did not observe any significant differences either in cortical thickness or in cerebellar lobular volumes between patients and HS. WM abnormalities were detected in most hemisphere bundles, particularly in the corticospinal tract, cerebellar peduncles, and corpus callosum. The WM abnormalities significantly correlated with tremor severity, cognitive profile, and depression. CONCLUSION: Our study indicates that ET is characterized by several GM and WM changes of both infra- and supratentorial brain structures. The results may help to better understand mechanisms underlying tremor severity and psychiatric and cognitive impairment in ET. KEY POINTS: • We performed a comprehensive evaluation of gray and white matter in the same sample of patients with essential tremor using recently developed data analysis methods. • Essential tremor is characterized by widespread gray and white matter changes in both infra- and supratentorial brain structures. The results may help to better understand motor and non-motor symptoms in patients with essential tremor.


Assuntos
Imagem de Tensor de Difusão/métodos , Tremor Essencial/diagnóstico , Substância Cinzenta/patologia , Substância Branca/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Gânglios da Base/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
12.
Clin Imaging ; 57: 1-6, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31078916

RESUMO

BACKGROUND/PURPOSE: In acute proximal middle cerebral artery (MCA) occlusion covering the lenticulostriate arteries (LSA), ischemic tolerance of basal ganglia is limited due to supposed lack of collateral supply. However, in several patients, basal ganglia (BG) infarction was absent after successful mechanical thrombectomy (MTE). Purpose of our study was to evaluate predictors for BG viability in stroke patients despite prolonged MCA mainstem occlusion. MATERIAL/METHODS: We retrospectively reviewed all stroke patients from our local registry with MCA mainstem occlusion after mechanical thrombectomy between November 2009 and October 2016. All patients underwent non-enhanced post-interventional cranial CT imaging (NCCT) and were classified according to 6 patterns of BG viability: complete: putamen (P) and globus pallidus (GP); partial: P or GP, and combination of complete or partial BG and/or adjacent white matter/cortical (WMC) viability. We compared viability patterns with respect to pre-interventional stroke imaging including NCCT, CT-angiography (CTA), CT perfusion (CTP); demographics, pre- and intra-procedural data and occurrence of post-procedural intracerebral hematoma (ICH). CTP imaging of the affected and contralateral BG-territories were obtained separately and CTA-collateral score (CS) was assessed. RESULTS: A significant correlation between higher collateral score and viability of GP (OR = 1.949; p = .011), P (OR = 2.039, p = .011), and the combination of GP, P and WMC (OR = 2.767, p = .007) was revealed. Higher relative CBV ratio (rCBVR) was significantly associated with viability of the pattern GP + WMC (univariate: OR = 3.160, p = .014; multivariate: OR = 6.058; p = .021). CONCLUSION: CTA collateral score and rCBVR were predictive for BG viability in stroke patients after successful MTE in prolonged complete MCA-mainstem and LSA occlusion.


Assuntos
Gânglios da Base/patologia , Infarto da Artéria Cerebral Média/cirurgia , Acidente Vascular Cerebral/cirurgia , Trombectomia/métodos , Idoso , Idoso de 80 Anos ou mais , Gânglios da Base/irrigação sanguínea , Angiografia Cerebral/métodos , Angiografia por Tomografia Computadorizada/métodos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Tomografia Computadorizada por Raios X
13.
NMR Biomed ; 32(6): e4089, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30924565

RESUMO

Little attention has been paid to relating MRS outputs of vendor-supplied platforms to those from research software. This comparison is crucial to advance MRS as a clinical prognostic tool for disease or injury, recovery, and outcome. The work presented here investigates the agreement between metabolic ratios reported from vendor-provided and LCModel fitting algorithms using MRS data obtained on Siemens 3 T TIM Trio and 3 T Skyra MRI scanners in a total of 55 premature infants and term neonates with hypoxic ischemic encephalopathy (HIE). We compared peak area ratios in single voxels placed in basal ganglia (BG) and frontal white matter (WM) using standard PRESS (TE = 30 ms and 270 ms) and STEAM (TE = 20 ms) MRS sequences at multiple times after birth from 5 to 60 days. A total of 74 scans met quality standards for inclusion, reflecting a spectrum of neonatal disease and several months of early infant development. For the long TE PRESS sequence, N-acetylaspartate (NAA) and Choline (Cho) ratios to Creatine (Cr) correlated strongly between LCModel and vendor-supplied software in the BG. For shorter TEs, the ratios of NAA/Cr and Cho/Cr were more closely related using STEAM at TE = 20 ms in BG and WM, which was significantly better than using PRESS at TE = 30 ms in the BG of HIE infants. At short TEs, however, it is still unclear which MRS sequence, STEAM or PRESS, is superior and thus more work is required in this regard for translating research-generated MRS ratios to clinical diagnosis and prognostication, and unlocking the potential of MRS for in vivo metabolomics. MRS at both long and short TEs is desirable for standard metabolites such as NAA, Cho and Cr, along with important lower concentration metabolites such as myo-inositol and glutathione.


Assuntos
Espectroscopia de Ressonância Magnética , Gânglios da Base/diagnóstico por imagem , Gânglios da Base/patologia , Humanos , Hipóxia-Isquemia Encefálica/diagnóstico por imagem , Hipóxia-Isquemia Encefálica/patologia , Lactente , Recém-Nascido , Metaboloma , Fatores de Tempo
14.
Nat Commun ; 10(1): 802, 2019 02 18.
Artigo em Inglês | MEDLINE | ID: mdl-30778070

RESUMO

Both basal ganglia (BG) and orbitofrontal cortex (OFC) have been widely implicated in social and non-social decision-making. However, unlike OFC damage, BG pathology is not typically associated with disturbances in social functioning. Here we studied the behavior of patients with focal lesions to either BG or OFC in a multi-strategy competitive game known to engage these regions. We find that whereas OFC patients are significantly impaired, BG patients show intact learning in the economic game. By contrast, when information about the strategic context is absent, both cohorts are significantly impaired. Computational modeling further shows a preserved ability in BG patients to learn by anticipating and responding to the behavior of others using the strategic context. These results suggest that apparently divergent findings on BG contribution to social decision-making may instead reflect a model where higher-order learning processes are dissociable from trial-and-error learning, and can be preserved despite BG damage.


Assuntos
Gânglios da Base/patologia , Jogos Experimentais , Aprendizagem , Córtex Pré-Frontal/patologia , Humanos , Modelos Logísticos
15.
Zhonghua Er Ke Za Zhi ; 57(1): 46-49, 2019 Jan 02.
Artigo em Chinês | MEDLINE | ID: mdl-30630231

RESUMO

Objective: To investigate the clinical characteristics and risk-factors of traumatic basal ganglia stroke (TBGS) in children. Methods: A retrospective case study was conducted to analyze the clinical and imaging data of 16 children with TBGS in the First Hospital of Jilin University from January 2014 to June 2017. A total of 16 TBGS cases (11 males, 5 females) were diagnosed and the age ranged from 0.5 to 13.0 years. The prognosis of children with TBGS at different ages (≥5 years and<5 years) and with different traumatic stroke (infarction and hemorrhage) were compared. Fisher 's test was used to compare the prognosis of different groups. Results: All cases had clear history of head trauma and varying degrees of limb paralysis after injury, including 4 cases of facial paralysis, 3 cases of consciousness disturbance and 1 case of seizures. Head CT scan of the 16 cases showed 11 cases of ischemic stroke and 5 cases of hemorrhagic stroke. Moreover, scattered calcification was observed in the bilateral basal ganglia point of 8 cases. Neurotrophic treatment, microcirculation improvement and nerve rehabilitations were given according to the clinical and imaging data. One patient was treated with craniotomy and hematoma clearance. Of the 16 cases, 11 cases were restored to normal, while 3 cases developed limb paralysis and 2 cases died. The prognosis of 11 cases of traumatic basal ganglia infarction (10 cases recovered and 1 case remained hemiplegic) was relatively better than that of 5 cases of hemorrhage (1 case recovered, 2 cases remained hemiplegic and 2 cases died) (χ(2)=8.045, P=0.013). In addition, the children younger than 5-year-old (all 8 cases recovered) had a better prognosis than the children older than 5-year-old (8 cases, 3 of whom recovered, 3 cases remained hemiplegia, 2 cases died)(χ(2)=12.121, P<0.01). Conclusions: The anatomical characteristics of basal ganglia and calcification of the lenticulostriate artery are risk-factors for TBGS in children. The prognosis of infarcted children and younger children is relatively better.


Assuntos
Acidente Vascular Cerebral , Tomografia Computadorizada por Raios X , Adolescente , Gânglios da Base/patologia , Calcinose , Criança , Pré-Escolar , Traumatismos Craniocerebrais , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/diagnóstico , Acidente Vascular Cerebral/terapia
16.
Tijdschr Psychiatr ; 61(1): 48-52, 2019.
Artigo em Holandês | MEDLINE | ID: mdl-30640406

RESUMO

Idiopathic basal ganglia calcification is a rare neuropathological syndrome characterised by symmetrical and bilateral calcifications found primarily in the basal ganglia. Psychosis is describedas an acute presentation of idiopathic ganglia calcification. We describe the development of psychosis in a 48-year-old man, initially hospitalised on the neurology ward due to syncope. A ct scan of the brain showed bilateral, symmetrical calcification of the basal ganglia and nucleus dentatus. Laboratory research excluded other pathological disorders. The patient was referred to a psychiatric ward, where the administration of risperidone led to alleviation of his mental state. This case report underlines the importance of an accurate, comprehensive differential diagnosis and the associated significance of neuroimaging.


Assuntos
Gânglios da Base/patologia , Encefalopatias/complicações , Encéfalo/patologia , Calcinose/complicações , Calcinose/patologia , Diagnóstico Diferencial , Humanos , Masculino , Pessoa de Meia-Idade , Neuroimagem , Transtornos Psicóticos/diagnóstico
17.
J Neuropathol Exp Neurol ; 78(1): 3-9, 2019 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-30476126

RESUMO

Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare hypomyelinating leukodystrophy characterized by infantile or childhood onset of motor developmental delay, progressive rigidity and spasticity, with hypomyelination and progressive atrophy of the basal ganglia and cerebellum due to a genetic mutation of the TUBB4A gene. It has only been recognized since 2002 and the full spectrum of the disorder is still being delineated. Here, we review a case report of a severely affected girl with a thorough neuropathological evaluation demonstrating novel clinical and pathological findings. Clinically, our patient demonstrated visual dysfunction and hypodontia in addition to the typical phenotype. Morphologically, more severe and widespread changes in the white matter were observed, including to the optic tracts; in gray structures such as the caudate nucleus, thalamus, globus pallidus, and substantia nigra; as well as an area of focal cortical dysplasia. Overall this case offers further insight into the broad range of clinical and neuropathological findings that may be associated with H-ABC and related TUBB4A gene mutations.


Assuntos
Leucoencefalopatias/patologia , Tubulina (Proteína)/genética , Atrofia/genética , Atrofia/patologia , Gânglios da Base/patologia , Cerebelo/patologia , Pré-Escolar , Feminino , Humanos , Lactente , Leucoencefalopatias/genética , Mutação
18.
Pediatr Neurol ; 90: 37-43, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30396833

RESUMO

OBJECTIVE: Phelan-McDermid syndrome is caused by haploinsufficiency of SHANK3 on terminal chromosome 22. Knowledge about altered neuroanatomic circuitry in Phelan-McDermid syndrome comes from mouse models showing striatal hypertrophy in the basal ganglia, and from humans with evidence of cerebellar atrophy. To date, no studies have performed volumetric analysis on Phelan-McDermid syndrome patients. METHODS: We performed volumetric analysis of baseline brain MRIs of Phelan-McDermid syndrome patients (ages three to 21 years) enrolled in a prospective natural history study (ClinicalTrials.gov NCT02461420). Using MRI segmentations carried out with PSTAPLE algorithm, we measured relative volumes (volume of the structure divided by the volume of the brain parenchyma) of basal ganglia and cerebellar structures. We compared these measurements to those of age- and sex-matched healthy controls part of another study. Among the patients, we performed linear regression of each relative volume using Repetitive Behavior Scale-Revised total score and Aberrant Behavior Checklist stereotypy score. Eleven patients with Phelan-McDermid syndrome (six females, five males) and 11 healthy controls were in this analysis. RESULTS: At time of MRI, the mean age of the patients and controls was 9.24 (5.29) years and 9.00 (4.49) years, respectively (P = 0.66). Compared to controls, patients had decreased caudate (P ≤ 0.013), putamen (P ≤ 0.026), and left pallidum (P = 0.033) relative volumes. Relative volume of cerebellar vermal lobules I to V (beta coefficient = -17119, P = 0.017) decreased with increasing Repetitive Behavior Scale-Revised total score. CONCLUSIONS: The volumes of the striatum and left pallidum are decreased in individuals with Phelan-McDermid syndrome. Cerebellar vermis volume may predict repetitive behavior severity in Phelan-McDermid syndrome. These findings warrant further investigation in larger samples.


Assuntos
Gânglios da Base/patologia , Cerebelo/patologia , Transtornos Cromossômicos/patologia , Adolescente , Gânglios da Base/diagnóstico por imagem , Cerebelo/diagnóstico por imagem , Criança , Pré-Escolar , Deleção Cromossômica , Transtornos Cromossômicos/diagnóstico por imagem , Cromossomos Humanos Par 22 , Feminino , Humanos , Imagem por Ressonância Magnética , Masculino , Neuroimagem , Tamanho do Órgão , Adulto Jovem
19.
Magn Reson Med Sci ; 18(3): 194-199, 2019 Jul 16.
Artigo em Inglês | MEDLINE | ID: mdl-30416181

RESUMO

PURPOSE: Since the first report on the deposition of gadolinium in the brain parenchyma after repeated intravenous administrations of gadolinium-based contrast agent GBCA (IV-GBCA), the mechanisms of penetration and retention are still remaining a hot topic of discussion and a target of investigation. We routinely obtain endolymphatic hydrops (EH) images at 4 h after IV administration of a single dose (SD) of GBCA (IV-SD-GBCA) using heavily T2-weighted three-dimensional fluid-attenuated inversion recovery imaging (hT2W-3D-FLAIR). Occasionally, we have encountered cases, which indicate high-signal intensity (SI) in the cerebrospinal fluid (CSF) surrounding the vein of Labbe. The purpose of the present study was to investigate the degree of contrast enhancement of the CSF surrounding the vein of Labbe on hT2W-3D-FLAIR after IV-SD-GBCA in comparison with other CSF spaces. MATERIALS AND METHODS: In 25 patients with a suspicion of EH, a magnetic resonance cisternography (MRC) and an hT2W-3D-FLAIR were obtained at 4 h after IV-SD-GBCA. The perivascular space (PVS) in the basal ganglia, CSF spaces in the ambient cistern (CSF-Amb), the CSF surrounding the superficial middle cerebral vein (CSF-SMCV), and the CSF surrounding the vein of Labbe (CSF-VL) were segmented on MRC. The PVS and CSF regions were co-registered onto the hT2W-3D-FLAIR and the SI of the PVS and CSF spaces were measured. The SI ratio (SIR) of the post-contrast hT2W-3D-FLAIR to the pre-contrast hT2W-3D-FLAIR was measured. Significant differences were evaluated using Steel-Dwass's test for multiple comparisons. RESULTS: The SIR of the CSF-VL was significantly higher than that of the PVS (P = 0.008), the CSF-Amb (P = 0.021), and the CSF-SMCV (P = 0.023). CONCLUSION: The strong contrast enhancement of CSF space around the vein of Labbe was confirmed on hT2W-3D-FLAIR at 4 h after IV-GBCA compared to the PVS and the other CSF spaces.


Assuntos
Gânglios da Base/diagnóstico por imagem , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Veias Cerebrais/diagnóstico por imagem , Líquido Cefalorraquidiano/diagnóstico por imagem , Hidropisia Endolinfática/diagnóstico por imagem , Espaço Subaracnóideo/diagnóstico por imagem , Administração Intravenosa , Adulto , Idoso , Gânglios da Base/patologia , Veias Cerebrais/patologia , Meios de Contraste/administração & dosagem , Hidropisia Endolinfática/patologia , Feminino , Gadolínio DTPA/administração & dosagem , Humanos , Imagem por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Espaço Subaracnóideo/patologia
20.
Exp Gerontol ; 115: 139-147, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30528639

RESUMO

This pilot work examined associations of brain grey matter volumes (GMV) with perceived fatigability in older adults to elucidate disablement mechanisms. A subsample (n = 29; age = 77.2 ±â€¯5.5; 86% female) of participants from the Lifestyle Interventions and Independence for Elders (LIFE) Study was utilized to quantify GMV for regions of interest in the basal ganglia and limbic system normalized to intracranial volume. The Pittsburgh Fatigability Scale measured physical and mental fatigability (score 0-50; higher physical fatigability ≥ 15; higher mental fatigability ≥ 13). We used an exploratory alpha level of p < 0.1. Nineteen (66%) participants had higher physical fatigability, 19 (66%) had higher mental fatigability, of these, 17 (57%) had both. Right hippocampal volumes/ICV were smaller in participants with higher verses lower physical fatigability (0.261 ±â€¯0.039 vs. 0.273 ±â€¯0.022, p = 0.07); associations were similar for right putamen and bilateral thalamus. Higher mental fatigability was associated with smaller right hippocampus, thalamus, and posterior cingulum and bilateral amygdala. Higher fatigability in older adults may be associated with smaller volumes of the basal ganglia and limbic system, indicating mechanisms for further exploration.


Assuntos
Gânglios da Base/patologia , Fadiga/diagnóstico , Avaliação Geriátrica/métodos , Substância Cinzenta/patologia , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Modelos Logísticos , Imagem por Ressonância Magnética , Masculino , Projetos Piloto , Comportamento Sedentário , Caminhada/fisiologia
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