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1.
Nature ; 580(7802): 283-287, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32050258

RESUMO

Corticobasal degeneration (CBD) is a neurodegenerative tauopathy-a class of disorders in which the tau protein forms insoluble inclusions in the brain-that is characterized by motor and cognitive disturbances1-3. The H1 haplotype of MAPT (the tau gene) is present in cases of CBD at a higher frequency than in controls4,5, and genome-wide association studies have identified additional risk factors6. By histology, astrocytic plaques are diagnostic of CBD7,8; by SDS-PAGE, so too are detergent-insoluble, 37 kDa fragments of tau9. Like progressive supranuclear palsy, globular glial tauopathy and argyrophilic grain disease10, CBD is characterized by abundant filamentous tau inclusions that are made of isoforms with four microtubule-binding repeats11-15. This distinguishes such '4R' tauopathies from Pick's disease (the filaments of which are made of three-repeat (3R) tau isoforms) and from Alzheimer's disease and chronic traumatic encephalopathy (CTE) (in which both 3R and 4R isoforms are found in the filaments)16. Here we use cryo-electron microscopy to analyse the structures of tau filaments extracted from the brains of three individuals with CBD. These filaments were identical between cases, but distinct from those seen in Alzheimer's disease, Pick's disease and CTE17-19. The core of a CBD filament comprises residues lysine 274 to glutamate 380 of tau, spanning the last residue of the R1 repeat, the whole of the R2, R3 and R4 repeats, and 12 amino acids after R4. The core adopts a previously unseen four-layered fold, which encloses a large nonproteinaceous density. This density is surrounded by the side chains of lysine residues 290 and 294 from R2 and lysine 370 from the sequence after R4.


Assuntos
Doenças dos Gânglios da Base/patologia , Córtex Cerebral/patologia , Microscopia Crioeletrônica , Tauopatias/metabolismo , Tauopatias/patologia , Proteínas tau/química , Proteínas tau/ultraestrutura , Idoso , Doença de Alzheimer/metabolismo , Doença de Alzheimer/patologia , Sequência de Aminoácidos , Doenças dos Gânglios da Base/metabolismo , Química Encefálica , Córtex Cerebral/metabolismo , Encefalopatia Traumática Crônica/metabolismo , Encefalopatia Traumática Crônica/patologia , Feminino , Lobo Frontal/metabolismo , Lobo Frontal/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Modelos Moleculares , Doença de Pick/metabolismo , Doença de Pick/patologia , Dobramento de Proteína , Proteínas tau/metabolismo
3.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(2): 162-165, 2020 Feb 10.
Artigo em Chinês | MEDLINE | ID: mdl-32034746

RESUMO

OBJECTIVE: To explore the genetic basis for a neonate featuring global developmental delay. METHODS: Clinical and laboratory tests were carried out for the patient. Peripheral venous blood samples were collected from the neonate and his parents for the extraction of DNA. Potential variant was detected by using targeted capture and next generation sequencing for a panel of genes associated with nervous system diseases. Suspected variant was validated by Sanger sequencing. RESULTS: The nine-month-old boy manifested global developmental delay and was unstable to sit alone and distinguish strangers from acquaintance. Genetic testing revealed two novel variants of the SLC19A3 gene in him, namely c.448G>A and c.169C>T. The amino acids encoded by the two codons are highly conservative, and both variants were predicted to be pathogenic by bioinformatic analysis. CONCLUSION: The compound heterozygous c.448G>A and c.169C>T variants probably underlay the onset of disease in the patient. Above finding also enriched the variant spectrum of SLC19A3 gene underlying Biotin-thiamine responsive basal ganglia disease.


Assuntos
Doenças dos Gânglios da Base , Proteínas de Membrana Transportadoras/genética , Doenças dos Gânglios da Base/genética , Biotina , Encéfalo , Humanos , Lactente , Imagem por Ressonância Magnética , Masculino , Mutação , Tiamina
4.
J Neuropathol Exp Neurol ; 79(2): 238-241, 2020 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-31913475

RESUMO

Idiopathic basal ganglia calcification (IBGC), also known as Fahr disease, is a rare neurodegenerative disorder characterized by the accumulation of extensive parenchymal and vascular calcifications in the basal ganglia, with variable calcifications elsewhere in the brain. Typically, IBGC presents with neurologic and psychiatric symptoms in middle-aged adults. Recent genetic studies have identified alterations in 4 genes causing IBGC, including alterations in SLC20A2 on chromosome 8p11.2. Currently, there are no clinical descriptions of patients with IBGC occurring within the context of a complex genetic syndrome. Here, we present a case of pediatric 8p11 deletion with IBGC, hereditary spherocytosis, vitreoretinopathy, and focal cortical dysplasia. We review multiple cases of IBGC with pediatric onset due to SLC20A2 deletion in the literature, and raise the consideration of IBGC in the evaluation of pediatric patients with 8p11.2 deletion syndromes.


Assuntos
Doenças dos Gânglios da Base/genética , Doenças dos Gânglios da Base/patologia , Encéfalo/patologia , Calcinose/genética , Calcinose/patologia , Deleção Cromossômica , Cromossomos Humanos Par 8 , Esferocitose Hereditária/genética , Esferocitose Hereditária/patologia , Doenças dos Gânglios da Base/complicações , Calcinose/complicações , Feminino , Humanos , Proteínas Cotransportadoras de Sódio-Fosfato Tipo III/genética , Esferocitose Hereditária/complicações
5.
Clin Exp Dermatol ; 45(2): 159-164, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31323129

RESUMO

BACKGROUND: Woodhouse-Sakati syndrome (WSS) is a rare neuroendocrine and ectodermal disorder inherited in an autosomal recessive pattern. The syndrome presents prominent clinical features, including alopecia, neuroendocrine defects, neurological findings and progressive hearing loss. The condition results from mutations in the DCAF17 gene. AIMS: To search for the underlying genetic defect in a Pakistani family with WSS phenotypes. METHODOLOGY: Whole exome sequencing was used to search for the disease-causing variant. RESULTS: Analysis of the exome data revealed a start loss sequence variant (c.1A>G, p.M1?) in DCAF17. CONCLUSION: This variant is predicted to abolish translation of the DCAF17 polypeptide. To our knowledge, this is the first start loss variant identified in the DCAF17.


Assuntos
Alopecia/genética , Arritmias Cardíacas/genética , Doenças dos Gânglios da Base/genética , Diabetes Mellitus/genética , Hipogonadismo/genética , Deficiência Intelectual/genética , Proteínas Nucleares/genética , Deleção de Sequência , Complexos Ubiquitina-Proteína Ligase/genética , Adolescente , Adulto , Consanguinidade , Humanos , Masculino , Linhagem , Fenótipo , Sequenciamento Completo do Exoma
6.
Neurol India ; 67(6): 1522-1524, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31857551

RESUMO

Background: Bilateral striopallidodentate calcinosis (BSPDC) is a rare neurodegenerative disorder characterized by abnormal calcium accumulation in the basal ganglia, dentate nucleus, and semioval center. Speech, voice, and swallowing abnormalities can be associated with the disease. However, there are a limited number of studies regarding the speech and swallowing characteristics of this disease in the literature. Lee-Silverman voice therapy (LSVT-LOUD) is a structured speech therapy method that can be used to treat neurogenic conditions. Aims: The main purpose of this article was to document the effects of LSVT-LOUD on voice and swallowing functions in a case of BSPDC. Design: Case report. Methods: A comprehensive voice and swallowing evaluation, including objective methods, was conducted before therapy and at post-therapy follow-ups (FU) after 3 months and 6 months. Results: The voice and swallowing parameters were substantially improved at the 3-month FU; at the 6-month FU, the improvement in swallowing function was still preserved; however, the improvement in voice function had regressed. Conclusion: LSVT-LOUD may improve the voice and swallowing functions of patients with BSPDC. However, long-term retention of the effects of LSVT-LOUD should be investigated in future studies.


Assuntos
Doenças dos Gânglios da Base/terapia , Calcinose/terapia , Deglutição/fisiologia , Doenças Neurodegenerativas/terapia , Fonoterapia/métodos , Voz/fisiologia , Doenças dos Gânglios da Base/fisiopatologia , Calcinose/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Neurodegenerativas/fisiopatologia , Resultado do Tratamento
7.
Handb Clin Neurol ; 165: 155-177, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31727210

RESUMO

Progressive supranuclear palsy (PSP), multiple system atrophy (MSA), and corticobasal degeneration (CBD) are forms of parkinsonism. PSP and CBD are 4R tauopathies and clinicopathologic overlaps exist between these two disorders. Neuropsychiatric symptoms including apathy, depression, anxiety are common features in patients with PSP and CBD. Disinhibition and impulsive behavior are also frequently observed in PSP patients, whereas hallucinations are seen only occasionally. Severe derangement in several neurotransmitter systems may account for behavioral symptoms observed in PSP and CBD, but substitutive therapy is not effective. Recent advances in genetics, epidemiology, biomarkers, pathophysiology, molecular mechanisms, and, in particular, the availability of treatments that may modify disease progression are opening new hopes in the care of these devastating disorders. MSA is a synucleinopathy with well characterized motor and autonomic dysfunction. MSA patients frequently show the presence of rapid eye movement (REM) behavior disorders, but the impact of neuropsychiatric disturbances and cognitive impairment in MSA needs further study. The availability of animal models and recent advances in the pathophysiology of α-synuclein accumulation are shedding light on the disease, opening new avenues for possible treatments.


Assuntos
Doenças dos Gânglios da Base/diagnóstico , Doenças dos Gânglios da Base/metabolismo , Atrofia de Múltiplos Sistemas/diagnóstico , Atrofia de Múltiplos Sistemas/metabolismo , Paralisia Supranuclear Progressiva/diagnóstico , Paralisia Supranuclear Progressiva/metabolismo , Doenças dos Gânglios da Base/terapia , Humanos , Atrofia de Múltiplos Sistemas/terapia , Doenças Neurodegenerativas/diagnóstico , Doenças Neurodegenerativas/metabolismo , Doenças Neurodegenerativas/terapia , Transtornos Parkinsonianos/diagnóstico , Transtornos Parkinsonianos/metabolismo , Transtornos Parkinsonianos/terapia , Paralisia Supranuclear Progressiva/terapia , alfa-Sinucleína/antagonistas & inibidores , alfa-Sinucleína/metabolismo
9.
Zhonghua Nei Ke Za Zhi ; 58(12): 905-907, 2019 Dec 01.
Artigo em Chinês | MEDLINE | ID: mdl-31775454

RESUMO

The clinical and imaging data in 6 patients with corticobasal syndrome were retrospectively analyzed. Six patients presented asymmetric clinical symptoms, including 5 with cognitive impairment, 6 with emotional disorders, 2 with cortical sensory deficit, 5 with lalopathy, and 4 with apraxia. All patients developed limb dystonia and limb or trunk stiffness, 4 with tumble, 4 with bradykinesia, and 2 with tremor. Brain magnetic resonance imaging (MRI) showed that 4 patients had unilateral cerebral atrophy and 2 had mild atrophy of bilateral hippocampus. Localized low glucose metabolism in the unilateral cerebral lobe was seen in four patients by positron emission computed tomography (PET) examination, suggesting that PET is helpful for the diagnosis of corticobasal syndrome.


Assuntos
Córtex Cerebral/diagnóstico por imagem , Degeneração Lobar Frontotemporal/diagnóstico , Imagem por Ressonância Magnética , Doenças Neurodegenerativas/diagnóstico , Neuroimagem , Tomografia por Emissão de Pósitrons , Doenças dos Gânglios da Base/diagnóstico , Doenças dos Gânglios da Base/patologia , Encéfalo/diagnóstico por imagem , Degeneração Lobar Frontotemporal/patologia , Humanos , Doenças Neurodegenerativas/patologia , Estudos Retrospectivos , Síndrome
10.
Cogn Behav Neurol ; 32(3): 208-213, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31517705

RESUMO

Corticobasal degeneration (CBD), a tau-related neurodegenerative disease, is characterized by limb rigidity, dystonia, myoclonus, apraxia, and cognitive deficits. We report a patient with probable corticobasal syndrome, a major phenotype of CBD, who revealed both lower vertical and proximal radial attentional neglect on line bisection tests. Brain imaging revealed bilateral parietal atrophy with hypometabolism in the bilateral parietal, dorsolateral prefrontal, and premotor cortices. Bilateral impairment in the dorsal attentional network reduces the allocation of spatial attention to lower and proximal space, causing lower vertical and proximal radial attentional neglect. Screening for various types of spatial neglect may be important in tailoring management and rehabilitation strategies for patients with CBD.


Assuntos
Atenção/fisiologia , Doenças dos Gânglios da Base/diagnóstico , Encéfalo/patologia , Doenças Neurodegenerativas/diagnóstico , Orientação Espacial/fisiologia , Doenças dos Gânglios da Base/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Neurodegenerativas/patologia
11.
Nord J Psychiatry ; 73(8): 546-550, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31532276

RESUMO

Background: The Drug-Induced Extrapyramidal Symptoms Scale (DIEPSS) is a multidimensional rating scale designed for the fast, easy and reliable assessment of extrapyramidal symptoms (EPSs) induced by antipsychotics. Aim: The aim of this study was to validate the level of inter-rater and test-retest reliability of the Norwegian translation of this scale. Methods: A total of 125 video clips showing a variety of or no signs of EPSs were used in the present study. The participants recorded were Japanese psychiatric patients receiving first- and/or second-generation antipsychotics. A total of 103 patients (47 males and 56 females), diagnosed with schizophrenia (n = 68) or mood disorders (n = 35) appeared in the video clips. Their mean age was 48.7 ± 16.3 years (range 18-80) at the time of video recording. Inter-rater agreement was assessed with five raters and test-retest reliability with three. Results: Inter-rater reliability analyses showed interclass correlation coefficients (ICCs) ranging from 0.74 to 0.93 for each individual item. Test-retest reliability analysed independently for each rater ranged from 0.71 to 0.96. Conclusions: Inter-rater and test-retest agreement exhibited satisfactory ICC levels above 0.70. The Norwegian version of the DIEPSS is a reliable instrument for the assessment of drug-induced EPSs.


Assuntos
Antipsicóticos/efeitos adversos , Doenças dos Gânglios da Base/induzido quimicamente , Doenças dos Gânglios da Base/diagnóstico , Transtornos Mentais/tratamento farmacológico , Escalas de Graduação Psiquiátrica/normas , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Doenças dos Gânglios da Base/epidemiologia , Feminino , Humanos , Japão/epidemiologia , Masculino , Transtornos Mentais/epidemiologia , Transtornos Mentais/psicologia , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Gravação em Vídeo/normas , Adulto Jovem
12.
J Psychiatr Pract ; 25(5): 391-394, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31505527

RESUMO

Fahr disease, also known as familial idiopathic basal ganglia calcification, is a rare neurodegenerative disorder, the etiology of which remains unknown. Given its various presentations, Fahr disease is presumed to be underdiagnosed and its prevalence underestimated. We present a case of Fahr disease that presented mainly with pure psychiatric symptoms. Isolated psychiatric symptoms without neurological manifestations are rarely seen in patients diagnosed with Fahr disease. Psychiatrists should consider Fahr disease as a differential diagnosis in the evaluation of psychiatric illness.


Assuntos
Doenças dos Gânglios da Base , Transtornos Mentais , Doenças Neurodegenerativas , Gânglios da Base , Calcinose , Humanos
13.
J Pediatr Endocrinol Metab ; 32(11): 1287-1293, 2019 Nov 26.
Artigo em Inglês | MEDLINE | ID: mdl-31472064

RESUMO

Background Woodhouse-Sakati syndrome (WSS) (OMIM#241080) is an extremely rare multisystemic disease. Alopecia, hypogonadism, loss of hearing, hypothyroidism, diabetes mellitus (DM) and neurological disorders are the components of this syndrome. The syndrome is caused by homozygous or compound heterozygous mutations in DCAF17, and has recently been implicated in the development of both male and female gonads, thus resulting in hypogonadism. Case report A 16-year-old girl with consanguineous parents was admitted to our hospital with absence of breast development and amenorrhea. Hypogonadism was detected, in the form of hypergonadotropic hypogonadism. Whole-exome sequencing was used to identify the genetic etiology underlying the hypogonadism. A novel homozygous variant c.1091 + 1G > A was detected in DCAF17. Both parents were sequenced and identified as heterozygous for the same mutation. Conclusions We report a novel mutation detected in the DCAF17 gene and discuss the clinical findings in patients with previously reported mutations. Various manifestations of WSS, such as alopecia, endocrinological and neurological disorders, do not emerge until later in life, and therefore this situation can be challenging to diagnose particularly in pediatric cases, as in the present report. Careful attention should be paid to these additional findings, which may lead to early diagnosis and reduced genetic analysis costs, in patients with hypogonadism. In addition, there was no obvious genetic-phenotype correlation in reported cases.


Assuntos
Alopecia/genética , Alopecia/patologia , Arritmias Cardíacas/genética , Arritmias Cardíacas/patologia , Doenças dos Gânglios da Base/genética , Doenças dos Gânglios da Base/patologia , Diabetes Mellitus/genética , Diabetes Mellitus/patologia , Homozigoto , Hipogonadismo/patologia , Deficiência Intelectual/genética , Deficiência Intelectual/patologia , Mutação , Proteínas Nucleares/genética , Complexos Ubiquitina-Proteína Ligase/genética , Adolescente , Feminino , Humanos , Hipogonadismo/genética , Prognóstico
14.
Clin Chim Acta ; 499: 13-15, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31404531

RESUMO

The product of thiamine phosphokinase is the cofactor for many enzymes, including the dehydrogenases of pyruvate, 2-ketoglutarate and branched chain ketoacids. Its deficiency has recently been described in a small number of patients, some of whom had a Leigh syndrome phenotype. The patient who also had a Leigh phenotype was initially found to have a low concentration of biotin in plasma and massive urinary excretion of biotin. Despite treatment with biotin and thiamine, her disease was progressive. Mutations c.311delG and c.426G > C were found in the TPK1 gene.


Assuntos
Doenças dos Gânglios da Base/genética , Biotina/uso terapêutico , Tiamina Pirofosfoquinase/deficiência , Tiamina Pirofosfoquinase/genética , Adulto , Doenças dos Gânglios da Base/metabolismo , Doenças dos Gânglios da Base/patologia , Biotina/sangue , Biotina/urina , Feminino , Humanos , Mutação , Fenótipo , Tiamina Pirofosfoquinase/metabolismo , Tiamina/uso terapêutico
15.
Ann Neurol ; 86(4): 517-526, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31376168

RESUMO

OBJECTIVE: X-linked dystonia-parkinsonism (XDP) is a neurodegenerative disease with adult onset dystonia and subsequent parkinsonism. Postmortem and imaging studies revealed remarkable striatal pathology, with a predominant involvement of the striosomal compartment in the early phase. Here, we aimed to disentangle sequential neurodegeneration in the striatum of XDP patients, provide evidence for preferential loss of distinct striatal areas in the early phase, and investigate whether iron accumulation is present. METHODS: We used multimodal structural magnetic resonance imaging (voxel-based morphometry and relaxometry) in 18 male XDP patients carrying a TAF1 mutation and 19 age-matched male controls. RESULTS: Voxel-based relaxometry and morphometry revealed (1) a cluster in the anteromedial putamen showing high iron content and severe atrophy (-55%) and (2) a cluster with reduced relaxation rates as a marker for increased water levels and a lower degree of atrophy (-20%) in the dorsolateral putamen. Iron deposition correlated with the degree of atrophy (ρ = -0.585, p = 0.011) and disease duration (ρ = 0.632, p = 0.005) in the anteromedial putamen. In the dorsolateral putamen, sensorimotor putamen atrophy correlated with disease severity (ρ = -0.649, p = 0.004). INTERPRETATION: This multimodal approach identified a patchy pattern of atrophy within the putamen. Atrophy is advanced and associated with iron accumulation in rostral regions of the striatum, whereas neurodegeneration is moderate and still ongoing in dorsolateral areas. Given the short disease duration and predominant dystonic phenotype, these results are well in line with early and preferential degeneration of striosome-rich striatal areas in XDP. ANN NEUROL 2019;86:517-526.


Assuntos
Doenças dos Gânglios da Base/diagnóstico por imagem , Doenças dos Gânglios da Base/patologia , Distúrbios Distônicos/diagnóstico por imagem , Distúrbios Distônicos/patologia , Degeneração Neural/patologia , Transtornos Parkinsonianos/diagnóstico por imagem , Transtornos Parkinsonianos/patologia , Adulto , Atrofia/patologia , Doenças dos Gânglios da Base/complicações , Doenças dos Gânglios da Base/metabolismo , Estudos de Casos e Controles , Distúrbios Distônicos/complicações , Humanos , Ferro/metabolismo , Imagem por Ressonância Magnética , Masculino , Neuroimagem , Transtornos Parkinsonianos/complicações , Transtornos Parkinsonianos/metabolismo , Putamen/diagnóstico por imagem , Putamen/metabolismo , Putamen/patologia , Índice de Gravidade de Doença , Adulto Jovem
17.
BMC Musculoskelet Disord ; 20(1): 362, 2019 Aug 07.
Artigo em Inglês | MEDLINE | ID: mdl-31391033

RESUMO

BACKGROUND: Fahr's syndrome presenting multiple and symmetric calcification of basal ganglia and cerebral cortex is rare, and idiopathic hypoparatyroidism is known as one of the causes. The relationship between ossification of posterior longitudinal ligament (OPLL) and idiopathic hypoparatyroidism is also reported in a few cases. Here, we report a patient presenting concomitant Fahr's syndrome and thoracic OPLL developed by idiopathic hypoparatyroidism. CASE PRESENTATION: 53-year-old female patient presented myelopathic sign including gait disturbance and both leg weakness (Grade 3) for 4 months after slip down, and has the history of anti-epileptic medication for several years. Magnetic resonance imaging revealed cord compression by the mixed-type OPLL from T5 to T9, and decompressive surgery was planned. Sudden onset generalized tonic-clonic seizure attack developed before the surgery. Hypocalcemia (3.7 mg/dL) with QT prolongation on electrocardiogram, hypomagnesemia (1.4 mg/dL), hyperphosphatemia (7.7 mg/dL), hypoparathyroidism, and normal range of vitamin D was noted. Brain study showed Fahr's syndrome with multiple and symmetric calcification of basal ganglia, cerebral cortex, and cerebellum. Decompressive laminectomy was performed after transient correction of hypocalcemia. The myelopathic symptoms improved to normal walking by the 14-month follow-up. The cause of hypoparathyroidism was concluded to be idiopathic. CONCLUSION: Concomitant expression of Fahr's syndrome and OPLL related with idiopathic hypoparatyroidism is very rare. However, we recommend considering the possibility of hypoparathyroidism and Fahr's syndrome when we evaluate the patients with OPLL to avoid the risks of sudden onset seizure and cardiac arrhythmia due to cerebral lesions and hypocalcemia.


Assuntos
Doenças dos Gânglios da Base/etiologia , Calcinose/etiologia , Hipoparatireoidismo/complicações , Doenças Neurodegenerativas/etiologia , Ossificação do Ligamento Longitudinal Posterior/etiologia , Doenças dos Gânglios da Base/diagnóstico , Encéfalo/diagnóstico por imagem , Calcinose/diagnóstico , Descompressão Cirúrgica , Feminino , Humanos , Hipoparatireoidismo/diagnóstico , Ligamentos Longitudinais/diagnóstico por imagem , Imagem por Ressonância Magnética , Pessoa de Meia-Idade , Doenças Neurodegenerativas/diagnóstico , Ossificação do Ligamento Longitudinal Posterior/diagnóstico , Ossificação do Ligamento Longitudinal Posterior/cirurgia , Vértebras Torácicas , Tomografia Computadorizada por Raios X
18.
Continuum (Minneap Minn) ; 25(4): 919-935, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31356287

RESUMO

PURPOSE OF REVIEW: Patients who have parkinsonian features, especially without tremor, that are not responsive to levodopa, usually have one of these three major neurodegenerative disorders rather than Parkinson disease: progressive supranuclear palsy (PSP), multiple system atrophy (MSA), or corticobasal degeneration (CBD). Each of these disorders eventually develops signs and symptoms that distinguish it from idiopathic Parkinson disease, but these may not be present at disease onset. Although these conditions are not generally treatable, it is still important to correctly diagnose the condition as soon as possible. RECENT FINDINGS: In recent years, it has been increasingly recognized that the symptoms of these diseases do not accurately predict the pathology, and the pathology does not accurately predict the clinical syndrome. Despite this, interest has grown in treating these diseases by targeting misfolded tau (in the case of PSP and CBD) and misfolded α-synuclein (in the case of MSA). SUMMARY: Knowledge of the characteristic signs and symptoms of PSP, MSA, and CBD are essential in diagnosing and managing patients who have atypical parkinsonian syndromes.


Assuntos
Doenças dos Gânglios da Base/diagnóstico , Atrofia de Múltiplos Sistemas/diagnóstico , Paralisia Supranuclear Progressiva/diagnóstico , Idoso , Doenças dos Gânglios da Base/tratamento farmacológico , Doenças dos Gânglios da Base/fisiopatologia , Diagnóstico Diferencial , Dopaminérgicos/administração & dosagem , Feminino , Humanos , Levodopa/administração & dosagem , Masculino , Pessoa de Meia-Idade , Atrofia de Múltiplos Sistemas/tratamento farmacológico , Atrofia de Múltiplos Sistemas/fisiopatologia , Paralisia Supranuclear Progressiva/tratamento farmacológico , Paralisia Supranuclear Progressiva/fisiopatologia
19.
Neurol Sci ; 40(11): 2251-2263, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31267306

RESUMO

Basal ganglia calcifications could be incidental findings up to 20% of asymptomatic patients undergoing CT or MRI scan. The presence of neuropsychiatric symptoms associated with bilateral basal ganglia calcifications (which could occur in other peculiar brain structures, such as dentate nuclei) identifies a clinical picture defined as Fahr's Disease. This denomination mainly refers to idiopathic forms in which no metabolic or other underlying causes are identified. Recently, mutations in four different genes (SLC20A2, PDGFRB, PDGFB, and XPR1) were identified, together with novel mutations in the Myogenic Regulating Glycosylase gene, causing the occurrence of movement disorders, cognitive decline, and psychiatric symptoms. On the other hand, secondary forms, also identified as Fahr's syndrome, have been associated with different conditions: endocrine abnormalities of PTH, such as hypoparathyroidism, other genetically determined conditions, brain infections, or toxic exposure. The underlying pathophysiology seems to be related to an abnormal calcium/phosphorus homeostasis and transportation and alteration of the blood-brain barrier.


Assuntos
Doenças Autoimunes do Sistema Nervoso , Doenças dos Gânglios da Base , Calcinose , Síndrome de Cockayne , Hipoparatireoidismo , Vasculite Associada ao Lúpus do Sistema Nervoso Central , Doenças Mitocondriais , Malformações do Sistema Nervoso , Doenças Neurodegenerativas , Síndromes Neurotóxicas , Pseudo-Hipoparatireoidismo , Doenças dos Gânglios da Base/genética , Doenças dos Gânglios da Base/metabolismo , Doenças dos Gânglios da Base/patologia , Doenças dos Gânglios da Base/fisiopatologia , Calcinose/genética , Calcinose/metabolismo , Calcinose/patologia , Calcinose/fisiopatologia , Humanos , Doenças Neurodegenerativas/genética , Doenças Neurodegenerativas/metabolismo , Doenças Neurodegenerativas/patologia , Doenças Neurodegenerativas/fisiopatologia
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