Nerve Ultrasound Detects Nerve Atrophy in Patients With Ataxia-Telangiectasia: A Pilot Study.

Introduction/aims: Ataxia-telangiectasia (A-T) is a genetic multisystem neurodegenerative disorder characterized by cerebellar ataxia, oculocutaneous telangiectasia, extrapyramidal involvement, peripheral sensorimotor neuropathy, immunodeficiency, pulmonary disease, and an increased risk of malignancy that ultimately determines the shortened lifespan in many patients. A-T nerve ultrasonographic characteristics remain underexplored. This pilot study aimed to characterize the ultrasonographic morphology of peripheral nerves in patients with A-T.

Autosomal Recessive Ataxias in Northeast Brazil: A Regional Multicenter Case Series.

Unlabelled: Hereditary cerebellar ataxias are a diverse group of neurodegenerative disorders characterized by progressive cerebellar dysfunction and possible multisystemic involvement. While significant advancements have been made in understanding autosomal dominant cerebellar ataxias (ADCAs), autosomal recessive cerebellar ataxias (ARCAs) remain less extensively investigated than autosomal dominant ataxias, particularly in regions with high consanguinity. This study aimed to characterize 57 patients with ARCAs in Ceará, northeast Brazil.

Polyneuropathy in Cerebrotendinous Xanthomatosis: Diagnostic Challenges and Potential for Therapeutic Intervention.

Cerebrotendinous xanthomatosis (CTX) is a rare metabolic disorder caused by mutations in the gene, leading to cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is an underrecognized feature with considerable variability in clinical presentation and neurophysiological findings in CTX. This review assesses the prevalence, clinical manifestations, and diagnostic methodologies of polyneuropathy in CTX, exploring its underlying mechanisms and potential treatment outcomes.

Spinal cord compression by cystic IgG4-related spinal pachymeningitis mimicking neurocysticercosis: a case report.

Background: To report a case of IgG4-related pachymeningitis presenting with cystic lesions mimicking neurocysticercosis.

Case Presentation: A 40-year-old female patient with tetraparesis, dysphagia and dysphonia was evaluated with clinical examination, magnetic resonance imaging, and meningeal biopsy. Magnetic resonance imaging (MRI) revealed diffuse pachymeningeal enhancement involving the cranial, cervical, thoracic, and lumbar segments with spinal cord compression and cystic lesions.

Brazilian consensus recommendations on the diagnosis and treatment of autoimmune encephalitis in the adult and pediatric populations.

Background:  Autoimmune encephalitis (AIE) is a group of inflammatory diseases characterized by the presence of antibodies against neuronal and glial antigens, leading to subacute psychiatric symptoms, memory complaints, and movement disorders. The patients are predominantly young, and delays in treatment are associated with worse prognosis.

Objective:  With the support of the Brazilian Academy of Neurology (Academia Brasileira de Neurologia, ABN) and the Brazilian Society of Child Neurology (Sociedade Brasileira de Neurologia Infantil, SBNI), a consensus on the diagnosis and treatment of AIE in Brazil was developed using the Delphi method.

Young-Onset Alzheimer Dementia Due to a Novel Pathogenic Variant Initially Misdiagnosed as Autoimmune Encephalitis.

Objectives: Pathogenic variants in presenilin 1 are related to early-onset Alzheimer disease (AD) and may occur as de novo variants. In comparison with sporadic forms, it can present with psychiatric manifestations, seizures, myoclonus, and focal presentation. Because PSEN1 can occur in young patients who lack a family history of neurologic disorders and because these symptoms are also frequent in autoimmune encephalitis (AE), diagnosis may be overlooked.

Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report.

Background: Progressive Myoclonic Epilepsy (PME) is a group of rare diseases that are difficult to differentiate from one another based on phenotypical characteristics.

Case Report: We report a case of PME type 7 due to a pathogenic variant in KCNC1 with myoclonus improvement after epileptic seizures.

Discussion: Myoclonus improvement after seizures may be a clue to the diagnosis of Progressive Myoclonic Epilepsy type 7.

Identifying high-risk neurological phenotypes in adult-onset classic monogenic autoinflammatory diseases: when should neurologists consider testing?

Background: Monogenic autoinflammatory disorders result in a diverse range of neurological symptoms in adults, often leading to diagnostic delays. Despite the significance of early detection for effective treatment, the neurological manifestations of these disorders remain inadequately recognized.

Methods: We conducted a systematic review searching Pubmed, Embase and Scopus for case reports and case series related to neurological manifestations in adult-onset monogenic autoinflammatory diseases.

Editorial for Special Issue: "Neurogenetic Disorders across Human Life: From Infancy to Adulthood".

This Special Issue assembles papers that highlight different types of neurogenetic disorders that occur throughout human life, from childhood to adulthood, focusing on their natural history, epidemiology, diagnosis, and treatment approaches [...

Spinocerebellar ataxia type 2 has multiple ancestral origins.

Introduction: Spinocerebellar ataxia type 2 (SCA2) is a dominant neurodegenerative disorder due to expansions of a CAG repeat tract (CAGexp) at the ATXN2 gene. Previous studies found only one ancestral haplotype worldwide, with a C allele at rs695871. This homogeneity was unexpected, given the severe anticipations related to SCA2.

Expanding the phenotypic spectrum of -related leucoencephalopathy and ataxia.

Mutations in are a rare cause of autosomal recessive leucoencephalopathy with ataxia and specific imaging abnormalities. Very few cases have been reported to date. Here, we describe the clinical and imaging phenotype of 12 additional patients and expand the known phenotypic spectrum of this disorder.

Higher Prevalence of Nonsense Pathogenic Variants in a Single-Center Cohort from Brazil: A Genetic Profile Study That May Guide the Choice of Disease-Modifying Treatments.

Dystrophinopathies are muscle diseases caused by pathogenic variants in the largest gene described in humans, representing a spectrum of diseases ranging from asymptomatic creatine phosphokinase elevation to severe Duchenne muscular dystrophy (). Several therapeutic strategies are currently in use or under development, each targeting different pathogenic variants. However, little is known about the genetic profiles of northeast Brazilian patients with dystrophinopathies.

Pompe disease misdiagnosed as polymyositis.

Late-onset Pompe disease manifests predominantly in the proximal lower limbs and may be mistaken for an inflammatory myopathy. A 46-year-old man with acromegaly had an 8-year history of progressive weakness. His myopathy was initially attributed to the acromegaly, but severe progression prompted a muscle biopsy, which suggested an inflammatory myopathy.

Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy.

Background: Inherited nemaline myopathy is one of the most common congenital myopathies. This genetically heterogeneous disease is defined by the presence of nemaline bodies in muscle biopsy. The phenotypic spectrum is wide and cognitive involvement has been reported, although not extensively evaluated.

Supratentorial Lymphocytic Inflammation with Parenchymal Perivascular Enhancement Responsive to Steroids (SLIPPERS)-Does it Really Exist?

Supratentorial Lymphocytic Inflammation with Parenchymal Perivascular Enhancement Responsive to Steroids (SLIPPERS) is a rare variant of the CLIPPERS spectrum with less than ten reports published so far. There is ongoing discussion regarding whether SLIPPERS is a disease entity on its own or just an acronym encompassing many underlying diagnoses, such as sarcoidosis, vasculitis and anti-glial fibrillary acidic protein (GFAP)-associated disease. A 40-year-old woman presented with episodes of language and attention impairment.

Bailey-Bloch Congenital Myopathy in Brazilian Patients: A Very Rare Myopathy with Malignant Hyperthermia Susceptibility.

Background: Congenital myopathy-13 (CMYP13), also known as Bailey-Bloch congenital myopathy and Native American myopathy (NAM), is a condition caused by biallelic missense pathogenic variants in , which encodes an important protein necessary for the excitation-relaxation coupling machinery in the muscle. Patients with biallelic pathogenic variants in often present with congenital weakness and arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kyphoscoliosis, and susceptibility to malignant hyperthermia provoked by anesthesia. We present two unrelated cases of Bailey-Bloch congenital myopathy descendants of non-consanguineous parents, which were investigated for delayed psychomotor development and generalized weakness.