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1.
J Neurol Sci ; 456: 122841, 2024 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-38101161

RESUMO

Nephropathic cystinosis is a rare autosomal recessive storage disorder caused by CTNS gene mutations, leading to autophagy-lysosomal pathway impairment and cystine crystals accumulation. Neurologic involvement is highly variable and includes both neurodevelopmental and neurodegenerative disturbances, as well as focal neurologic deficits. By presenting longitudinal data of a 28-year-old patient with a large infratentorial lesion, we summarized the pathology, clinical and imaging features of neurological involvement in cystinosis patients. Brain damage in form of cystinosis-related cerebral lesions occurs in advanced disease phases and is characterized by the accumulation of cystine crystals, subsequent inflammation with vasculitis-like features, necrosis, and calcification. Epilepsy is a frequent comorbidity in affected individuals. Steroids might play a role in the symptomatic treatment of "stroke-like" episodes due to edematous-inflammatory lesions, but probably do not change the overall prognosis. Lifelong compliance to depleting therapy with cysteamine still represents the main therapeutic option. However, consequences of CTNS gene defects are not restricted to cystine accumulation. New evidence of four-repeat (4R-) Tau immunoreactivity suggests concurrent progressive neurodegeneration in cystinosis patients, highlighting the need of innovative therapeutic strategies, and shedding light on the crosstalk between proteinopathies and autophagy-lysosomal system defects. Eventually, emerging easily accessible biomarkers such as serum neurofilament light chains (NfL) might detect subclinical neurologic involvement in cystinosis patients.


Assuntos
Sistemas de Transporte de Aminoácidos Neutros , Cistinose , Humanos , Adulto , Cistinose/complicações , Cistinose/genética , Cistinose/tratamento farmacológico , Cistina/metabolismo , Cistina/uso terapêutico , Sistemas de Transporte de Aminoácidos Neutros/genética , Sistemas de Transporte de Aminoácidos Neutros/metabolismo , Sistemas de Transporte de Aminoácidos Neutros/uso terapêutico , Cisteamina/uso terapêutico , Inflamação/tratamento farmacológico , Encéfalo/diagnóstico por imagem , Encéfalo/metabolismo
2.
Neurol Res Pract ; 5(1): 61, 2023 Nov 16.
Artigo em Inglês | MEDLINE | ID: mdl-37968732

RESUMO

INTRODUCTION: Ameliorating symptoms and signs of Huntington's disease (HD) is essential to care but can be challenging and hard to achieve. The pharmacological treatment of motor signs (e.g. chorea) may favorably or unfavorably impact other facets of the disease phenotype (such as mood and cognition). Similarly, pharmacotherapy for behavioral issues may modify the motor phenotype. Sometimes synergistic effects can be achieved. In patients undergoing pragmatic polypharmacological therapy, emerging complaints may stem from the employed medications' side effects, a possibility that needs to be considered. It is recommended to clearly and precisely delineate the targeted signs and symptoms (e.g., chorea, myoclonus, bradykinesia, Parkinsonism, or dystonia). Evidence from randomized controlled trials (RCTs) is limited. Therefore, the guidelines prepared for the German Neurological Society (DGN) for German-speaking countries intentionally extend beyond evidence from RCTs and aim to synthesize evidence from RCTs and recommendations of experienced clinicians. RECOMMENDATIONS: First-line treatment for chorea is critically discussed, and a preference in prescription practice for using tiapride instead of tetrabenazine is noted. In severe chorea, combining two antidopaminergic drugs with a postsynaptic (e.g., tiapride) and presynaptic mode of action (e.g., tetrabenazine) is discussed as a potentially helpful strategy. Sedative side effects of both classes of compounds can be used to improve sleep if the highest dosage of the day is given at night. Risperidone, in some cases, may ameliorate irritability but also chorea and sleep disorders. Olanzapine can be helpful in the treatment of weight loss and chorea, and quetiapine as a mood stabilizer with an antidepressant effect. CONCLUSIONS: Since most HD patients simultaneously suffer from distinct motor signs and distinct psychiatric/behavioral symptoms, treatment should be individually adapted.

3.
Neurol Res Pract ; 5(1): 63, 2023 Nov 23.
Artigo em Inglês | MEDLINE | ID: mdl-37993913

RESUMO

INTRODUCTION: Choreiform movement disorders are characterized by involuntary, rapid, irregular, and unpredictable movements of the limbs, face, neck, and trunk. These movements often initially go unnoticed by the affected individuals and may blend together with seemingly intended, random motions. Choreiform movements can occur both at rest and during voluntary movements. They typically increase in intensity with stress and physical activity and essentially cease during deep sleep stages. In particularly in advanced stages of Huntington disease (HD), choreiform hyperkinesia occurs alongside with dystonic postures of the limbs or trunk before they typically decrease in intensity. The differential diagnosis of HD can be complex. Here, the authors aim to provide guidance for the diagnostic process. This guidance was prepared for the German Neurological Society (DGN) for German-speaking countries. RECOMMENDATIONS: Hereditary (inherited) and non-hereditary (non-inherited) forms of chorea can be distinguished. Therefore, the family history is crucial. However, even in conditions with autosomal-dominant transmission such as HD, unremarkable family histories do not necessarily rule out a hereditary form (e.g., in cases of early deceased or unknown parents, uncertainties in familial relationships, as well as in offspring of parents with CAG repeats in the expandable range (27-35 CAG repeats) which may display expansions into the pathogenic range). CONCLUSIONS: The differential diagnosis of chorea can be challenging. This guidance prepared for the German Neurological Society (DGN) reflects the state of the art as of 2023.

4.
Artigo em Inglês | MEDLINE | ID: mdl-33531378

RESUMO

OBJECTIVE: To expand the spectrum of anti-IgLON5 disease by adding 5 novel anti-IgLON5-seropositive cases with bulbar motor neuron disease-like phenotype. METHODS: We characterized the clinical course, brain MRI and laboratory findings, and therapy response in these 5 patients. RESULTS: Patients were severely affected by bulbar impairment and its respiratory consequences. Sleep-related breathing disorders and parasomnias were common. All patients showed clinical or electrophysiologic signs of motor neuron disease without fulfilling the diagnostic criteria for amyotrophic lateral sclerosis. One patient regained autonomy in swallowing and eating, possibly related to immunotherapy. CONCLUSION: IgLON5 disease is an important differential diagnosis to evaluate in patients with bulbar motor neuron disease-like phenotype and sleep disorders. There is need for a deeper understanding of the underlying pathobiology to determine whether IgLON5 disease is an immunotherapy-responsive condition.


Assuntos
Autoanticorpos/sangue , Moléculas de Adesão Celular Neuronais/sangue , Doença dos Neurônios Motores/sangue , Doença dos Neurônios Motores/diagnóstico , Idoso , Autoanticorpos/imunologia , Moléculas de Adesão Celular Neuronais/imunologia , Diagnóstico Diferencial , Feminino , Seguimentos , Humanos , Imunoterapia/métodos , Masculino , Pessoa de Meia-Idade , Doença dos Neurônios Motores/imunologia , Doença dos Neurônios Motores/terapia , Síndrome
5.
J Clin Neuromuscul Dis ; 22(3): 173-179, 2021 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-33596003

RESUMO

ABSTRACT: Collagen VI-related myopathies are caused by mutations of COL6A1, COL6A2, and COL6A3 and present with a wide phenotypic spectrum ranging from severe Ulrich congenital muscular dystrophy to mild Bethlem myopathy. Here, we report a consanguineous Kurdish family with 3 siblings affected by autosomal-recessive Bethlem myopathy caused by compound heterozygous mutations of COL6A3. We found the previously described missense mutation c.7447A > G/p.(Lys2483Glu) and a novel large deletion encompassing the exon 1-39 of the COL6A3 gene. Apart from the classical clinical symptoms, all patients had keratoconus, which expands the phenotype of the collagen VI-related myopathies.


Assuntos
Colágeno Tipo VI/genética , Doenças Musculares/genética , Mutação/genética , Adulto , Criança , Pré-Escolar , Contratura/genética , Éxons , Feminino , Humanos , Masculino , Músculo Esquelético , Distrofias Musculares/congênito , Distrofias Musculares/genética , Mutação de Sentido Incorreto , Fenótipo , Adulto Jovem
7.
Eur Arch Otorhinolaryngol ; 262(2): 135-8, 2005 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-15004711

RESUMO

Pneumocephalus is commonly associated with head and facial trauma, ear infection or surgical interventions. We describe the rare case of a spontaneous pneumocephalus arising from lateral mastoid air cells. A 48-year-old man presented with a 10-day history of sudden, repetitive, 'hammering-like' acoustic sensations in his left ear that were followed by word-finding difficulties and loss of vision in the right visual field. Imaging revealed a large, left temporal pneumatocele associated with a small acute intracerebral hemorrhage. Left temporal and subtemporal craniotomy and decompression were performed. Further exploration confirmed a dural and osseous defect in the anterolateral surface of the mastoid that was consecutively closed watertight. Although extremely rare, a spontaneous pneumocephalus with mastoidal origin should be considered as a possible diagnosis in patients with suggestive acoustic phenomena and other non-specific neurological symptoms.


Assuntos
Otopatias/complicações , Processo Mastoide/citologia , Pneumocefalia/etiologia , Afasia/etiologia , Craniotomia , Descompressão Cirúrgica , Humanos , Masculino , Pessoa de Meia-Idade , Pneumocefalia/cirurgia , Osso Temporal/cirurgia , Lobo Temporal/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Transtornos da Visão/etiologia
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