Autoimmune nodopathy with anti-contactin 1 antibody characterized by cerebellar dysarthria: a case report and literature review.

Background: Autoimmune nodopathy (AN) has emerged as a novel diagnostic category that is pathologically different from classic chronic inflammatory demyelinating polyneuropathy. Clinical manifestations of AN include sensory or motor neuropathies, sensory ataxia, tremor, and cranial nerve involvement. AN with a serum-positive contactin-1 (CNTN1) antibody usually results in peripheral nerve demyelination. In this study, we reported a rare case of AN with CNTN1 antibodies characterized by the presence of CNTN1 antibodies in both serum and cerebrospinal fluid, which is associated with cerebellar dysarthria. Methods: A 25-year-old man was admitted to our hospital due to progressive dysarthria with limb tremors. The patient was initially diagnosed with peripheral neuropathy at a local hospital. Three years after onset, he was admitted to our hospital due to dysarthria, apparent limb tremor, and limb weakness. At that time, he was diagnosed with spinocerebellar ataxia. Eight years post-onset, during his second admission, his condition had notably deteriorated. His dysarthria had evolved to typical distinctive cerebellar characteristics, such as tremor, loud voice, stress, and interrupted articulation. Additionally, he experienced further progression in limb weakness and developed muscle atrophy in the distal limbs. Magnetic resonance imaging (MRI), nerve conduction studies (NCS), and autoimmune antibody tests were performed. Results: The results of the NCS suggested severe demyelination and even axonal damage to the peripheral nerves. MRI scans revealed diffuse thickening of bilateral cervical nerve roots, lumbosacral nerve roots, cauda equina nerve, and multiple intercostal nerve root sheath cysts. Furthermore, anti-CNTN1 antibody titers were 1:10 in the cerebrospinal fluid (CSF) and 1:100 in the serum. After one round of rituximab treatment, the patient showed significant improvement in limb weakness and dysarthria, and the CSF antibodies turned negative. Conclusion: Apart from peripheral neuropathies, cerebellar dysarthria (central nervous system involvement) should not be ignored in AN patients with CNTN1 antibodies.

Topographic Consideration on the Occurrence of Ipsilesional Facial Paresis in Lateral Medullary Infarction.

INTRODUCTION: The purpose of this study was to identify course of the corticobulbar tract and factors associated with the occurrence of facial paresis (FP) in lateral medullary infarction (LMI). METHODS: Patients diagnosed with LMI who were admitted to tertiary hospital were retrospectively investigated and divided into two groups based on the presence of FP. FP was defined as grade 2 or more by the House-Brackmann scale. Differences between the two groups were analyzed with respect to anatomical location of the lesions, demographic data (age, sex), risk factors (diabetes, hypertension, smoking, prior stroke, atrial fibrillation, and other cardiac risk factors for stroke), large vessel involvement on magnetic resonance angiography, other symptoms and signs (sensory symptoms, gait ataxia, limb ataxia, dizziness, Horner syndrome, hoarseness, dysphagia, dysarthria, nystagmus, nausea/vomiting, headache, neck pain, diplopia, and hiccup). RESULTS: Among 44 LMI patients, 15 patients (34%) had FP, and all of them had ipsilesional central-type FP. The FP group tended to involve upper (p < 0.0001) and relative ventral (p = 0.019) part of the lateral medulla. Horizontally large lesion was also related to the presence of FP (p = 0.044). Dysphagia (p = 0.001), dysarthria (p = 0.003), and hiccups (p = 0.034) were more likely to be accompanied by FP. Otherwise, there were no significant differences. CONCLUSION: The results of present study indicate that the corticobulbar fibers innervating the lower face decussate at the upper level of the medulla and ascend through the dorsolateral medulla, where the concentration of the fibers is densest near the nucleus ambiguus.

Severe Hyperkalemia Masquerading as Acute Ischemic Stroke: A Case Report.

Severe hyperkalemia usually presents as cardiac or neurologic manifestations. We report a case of a 63-year-old Caucasian woman, who was admitted to Namazi Hospital, affiliated with Shiraz University of Medical Sciences (Shiraz, Iran) in August 2019. The patient suffered from left-sided weakness and slurred speech for one hour prior to admission. Initially, the patient was treated for acute ischemic stroke, and an intravenous recombinant tissue plasminogen activator (IV-rTPA) was prescribed. However, further investigations showed severe hyperkalemia. Hemiparesis and slurred speech improved significantly with appropriate management of hyperkalemia. To the best of our knowledge, this is the first case of hyperkalemia masquerading as acute ischemic stroke without evidence of concomitant central nervous system malignancies, large vessel atherosclerosis, or recreational drug abuse. Stroke mimics due to hyperkalemia should be considered in any patient with simultaneous sudden onset of focal neurologic deficits and tall peaked T waves, particularly in the context of renal failure and a history of potassium-sparing drug use.

A rare case of cerebellar degeneration due to primary Sjogren's syndrome.

Sjogren's syndrome (SS) is an autoimmune pathology which mainly affects salivary and lacrimal glands. Cerebellar degeneration association with SS is very rare, with only a few cases described. The treatment of SS with central nervous system involvement is not consensual. We present a 48-year-old woman with dysarthria, diplopia and ataxia associated with xerostomia. The brain magnetic imaging revealed bilateral cerebellar atrophy. She had antibody positivity for anti-SSA and anti-SSB and minor salivary glands biopsy revealed lymphocytic infiltration. Methylprednisolone, cyclophosphamide and intravenous immunoglobulin yielded no results. Rituximab was initiated with improvement in dysarthria and coordination.

Efficacy of soft palatal augmentation prosthesis for oral functional rehabilitation in patients with dysarthria and dysphagia: a protocol for a randomised controlled trial.

INTRODUCTION: Palatal augmentation prosthesis (PAP) is used in patients with articulation and swallowing disorders caused by postoperative loss of tongue tissue due to tongue cancer, cerebrovascular disease sequelae and age-related hypofunction. We have previously reported a newly designed soft PAP fabricated using an thermoplastic material that is particularly appropriate for early intervention. However, the effect of soft PAP on oral function improvement remains to be elucidated. The aim of this study is to investigate whether soft PAP can improve dysarthria and dysphagia occurring as cerebrovascular disease sequelae. METHODS AND ANALYSIS: This prospective, randomised, controlled trial will compare the immediate and training effects of rehabilitation using soft PAP with those of rehabilitation without using it. Primary outcomes are the single-word intelligibility test score and pharyngeal transit time (PTT). Secondary outcomes are tongue function (evaluated based on maximum tongue pressure, repetitions of tongue pressure and endurance of tongue pressure), articulation function (evaluated based on speech intelligibility, oral diadochokinesis, Voice-Related Quality of Life (V-RQOL)) and swallowing function (evaluated using Eating Assessment Tool-10). The study results will help determine the efficacy of Soft PAP in improving functional outcomes of word intelligibility and PTT. We hypothesised that early rehabilitation using Soft PAP would more effectively improve articulation and swallowing function compared with conventional rehabilitation without using soft PAP. ETHICS AND DISSEMINATION: Ethical approval was obtained from the Okayama University Certified Review Board. The study findings will be published in an open access, peer-reviewed journal and presented at relevant conferences and research meetings. TRIAL REGISTRATION NUMBER: jRCTs062200054.

Quality of life and physical activities of daily living among stroke survivors; cross-sectional study.

AIM: To examine the relationship between quality of life (QoL), level of physical activities of daily living (PADL) and associated factors among stroke survivors during the acute stage as there is little evidence in Sri Lanka. DESIGN: We conducted a descriptive cross-sectional study among conveniently recruited stroke survivors in Sri Lanka (n = 134). METHODS: QoL was assessed by the Short Form-36 (SF-36), while the PADL was assessed by the Barthel Index (BI). The relationship between SF36 and BI was assessed by Pearson correlation, while Multiple Linear Regression (MLR) was performed to determine the factors associated with QoL and PADL. RESULTS: The majority of the SF36 domains were below the average level of 50, while BI indicated that most of them belonged to either the severely or totally dependent category. Aphasia, disability, dysarthria, type of stroke, dyslipidaemia, smoking, alcohol consumption, geographical area and income were the associated factors of QoL, while disability of the face and limbs, dysarthria and smoking were the associated factors of PADL (p < .05).

Immediate effects of postural repositioning on maximum phonation duration tasks in seated individuals with acquired dysarthria: a pilot study.

PURPOSE: To determine the effectiveness of a single 10-min postural repositioning session on the maximum phonation duration (MPD) of the vowel/a/in individuals with acquired dysarthria. MATERIALS AND METHODS: A pre-post interventional design was implemented; five patients with dysarthria (PWDs) underwent a single 2-hour experimental session. MPD capacities were assessed before and immediately after a 10-min postural repositioning intervention by a physical and occupational therapist. Five age- and sex-matched individuals without dysarthria were recruited as controls. The main outcome measure was the MPD of the vowel/a/at conversational and louder voice levels, with a speech-and-language therapist standing 1 and 6 m away, respectively. Secondary outcome measures were thoracic expansion, manometry, electromyographic recordings of axial muscles and perceived effort. RESULTS: In PWDs, postural repositioning improved the MPD during the/a/-1-m (80.3% increase) and/a/-6-m tasks (18% increase), increased thoracic expansion and manometric measurements, and reduced the perceived effort necessary to perform the tasks. A triphasic electromyographic pattern was observed during both/a/-1-m and/a/-6-m tasks in controls, but was absent in participants with severe dysarthria, even after postural repositioning. Nonetheless, postural repositioning enabled an earlier onset of EMG activity prior to voice production. CONCLUSIONS: These data suggest the efficacy of postural repositioning in improving phonatory capacities essential for voice production in PWDs.

Deep Brain Stimulation for the Treatment of Juvenile Parkinsonism: Case Report

Juvenile parkinsonism (JP) is characterized by the clinical manifestation of Parkinson syndrome before the age of 21 years old. This entity is often associated with genetic mutations. After all the possibilities of clinical treatment have been exhausted, surgical treatment is recommended, performed via deep brain stimulation (DBS) in the subthalamic nucleus (STN) or in the internal segment of the globus pallidus (GPi). The present study aimed to report the case of a patient with JP who underwent DBS in the STN with good clinical response. Neuromodulation via DBS is an option for the treatment of JP. However, since this entity is very rare, and even more peculiar when treated surgically, more studies are necessary to evaluate DBS used to control refractory manifestations and levodopa-induced dyskinesia, as well as surgical complications that may occur, aiming to gather more knowledge of the surgical management of JP. Despite the dysarthria after the DBS, the patient presented a satisfactory response regarding the symptoms, corroborated by the Parkinson's Disease Questionnaire (PDQ-39) score, which was 61.19% before the procedure, and decreased to 21.05% 14 months after the DBS.

Multiple sclerosis showing elevation of adenosine deaminase levels in the cerebrospinal fluid.

An 80-year-old man developed dysarthria, quadriplegia, sensory disturbance and ataxia in all limbs. Brain and spinal magnetic resonance imaging (MRI) revealed multiple enhanced lesions. Cerebrospinal fluid (CSF) levels of adenosine deaminase (ADA) remarkably elevated. Tuberculosis DNA was not detected, and tuberculosis was not cultured either in the CSF. Brain biopsy revealed the inflammatory demyelinating lesions. With the diagnosis of multiple sclerosis, corticosteroid therapy resulted in rapid improvement of his symptoms and MRI abnormalities. CSF levels of ADA also decreased. Multiple sclerosis should be included in differential diagnosis of disorders with ADA elevation in the CSF.

Cerebroretinal microangiopathy with calcifications and cysts: demonstration of radiological progression.

Cerebroretinal microangiopathy with calcifications and cysts is a rare entity with progressive calcifications, enhancing subcortical cysts, and leukoencephalopathy. We present the oldest reported woman with this disorder, with 10 years of imaging documenting progression. This reveals (1) more profound white matter involvement than that previously reported and (2) growth and shrinkage of cysts over time, which may suggest a more complex pathogenesis than that previously theorized.

[Diabetes insipidus followed, after 4 years, with dysarthria and mild right-sided hemiparesis--the first clinical signs of Erdheim-Chester disease. Description and depiction of a case with a review of information on the disease]. / Diabetes insipidus, následovaný po 4 letech dysartrií a lehkou pravostrannou hemiparézou--první klinické príznaky Erdheimovy-Chesterovy nemoci. Popis a zobrazení prípadu s prehledem informací o této nemoci.

In 2004, diabetes insipidus was the first clinical sign of Erdheim-Chester disease in our patient. Following introduction of substitution therapy with adiuretin, the patient had no further health complaints for four years until 2008 when he gradually developed dysarthria and, consequently, movement disorder in the form of mild right hemiparesis. The first CNS CT scan (2004) did not reveal any pathology. The first pathological MRI of the brain in 2006 - thickening of pituitary stalk by pathological infiltration to 4-5 mm. During the following year, further infiltrates were detected in the CNS. The number and size of CNS infiltrates increased gradually on MRIs performed repeatedly up to 2008. Erdheim-Chester disease has become suspected based on PET-CT examination at the end of 2008. CT showed irregular structure of the skeleton with noticeable sclerotic foci in otherwise osteoporotic bone structure; changes were the most evident in the long bones of lower limbs, in the pelvic bones, skull and arms, while only one vertebra was affected from within the entire spine. Finding ofthickened aortic wall (up to 8 mm) as another pathological circumstance was consistent with the Erdheim-Chester disease-associated changes described as coated aorta. CT scan revealed clear fibrotic changes in the area of retroperitoneum. Applied fluorodeoxyglucose has accumulated in the bone foci described on CTscans as well as in the thickened wall ofthe thoracic and abdominal aorta (SUV 3.6). Tc-pyrophosphonate skeleton scintigraphy showed the same bone foci as PET-CT. Full body MRI showed pathological signal from the bone marrow of the above mentioned locations, particularly during STIR imagining, where there was clear abnormal signal corresponding to accumulated histiocytes, the higher signal of which was well-differentiated from the normal bone marrow. Measurement of bone mineral density with DEXA confirmed reduced density in lumbar vertebrae to the average value of - 2.7 SD (the lowest value was -3.1SD). The disease is associated with elevated inflammatory parameters: leucocytosis, thrombocytosis, elevated CRP and fibrinogen levels. Diagnosis was verified following histological assessment ofiliac bone marrow, where focal infiltrations with foamy histiocytes of typical immunophenotype (CD68+, CD1a-, S100-) were confirmed. Treatment was initiated with chemotherapy consisting of 2g/m2 of cyclophosphamide on day 1 and 200 mg/m2 of etoposide IV infusion on days 1-3, and followed by administration of 5 microg/kg of G-CSF and collection of haematopoietic peripheral blood stem cells (PBSC). PBSC collection was followed by 5-day administration of 5 mg/m2/day of 2-chlorodeoxyadenosine (Litac) administered to the patient at monthly intervals.

Diagnosis and treatment of bulbar symptoms in amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis (ALS) is the most common neurodegenerative disease of the motor system. Bulbar symptoms such as dysphagia and dysarthria are frequent features of ALS and can result in reductions in life expectancy and quality of life. These dysfunctions are assessed by clinical examination and by use of instrumented methods such as fiberendoscopic evaluation of swallowing and videofluoroscopy. Laryngospasm, another well-known complication of ALS, commonly comes to light during intubation and extubation procedures in patients undergoing surgery. Laryngeal and pharyngeal complications are treated by use of an array of measures, including body positioning, compensatory techniques, voice and breathing exercises, communication devices, dietary modifications, various safety strategies, and neuropsychological assistance. Meticulous monitoring of clinical symptoms and close cooperation within a multidisciplinary team (physicians, speech and language therapists, occupational therapists, dietitians, caregivers, the patients and their relatives) are vital.

Verb generation in children and adolescents with acute cerebellar lesions.

The aim of the present study was to examine verb generation in a larger group of children and adolescents with acute focal lesions of the cerebellum. Nine children and adolescents with cerebellar tumours participated. Subjects were tested a few days after tumour surgery. For comparison, a subgroup was tested also 1 or 2 days before surgery. None of the children had received radiation or chemotherapy at or before the time of testing. Eleven age- and education-matched control subjects participated. Subjects had to generate verbs to blocked presentations of photographs of objects. As control condition, the objects had to be named. Furthermore, dysarthria was quantified by means of a sentence production and syllable repetition task. Detailed analysis of individual 3D-MR images revealed that lesions affected cerebellar hemispheres in all children and adolescents. The right cerebellar hemisphere was affected in four and the left hemisphere in five subjects. In the present study, naming and verb generation accuracy were preserved in the majority of subjects with cerebellar lesions. No significant signs of learning deficits were observed, as reduction of reaction times over blocks was not different compared to controls. There was a trend of children and adolescents with right-hemispheric lesions to perform worse compared to controls. In this group, however, significant signs of dysarthria were present. In sum, no significant signs of disordered verb generation were observed in children and adolescents with acute cerebellar lesions. Findings suggest that the role of the cerebellum in verb generation may be less pronounced than previously suggested. Findings need to be confirmed in a larger group of subjects with acute focal lesions.

Forma intermediária de síndrome de Foix-Chavany-Marie / síndrome de Worster-Drought associada a movimentos involuntários: aspectos neuropsicológicos e fonoaudiológicos / Intermediary form of Foix-Chavany-Marie / Worster-Drought syndromes associated to involuntary movements: neuropsychological and phonoaudiological features

A síndrome de Foix-Chavany-Marie (SFCM) caracteriza-se por apraxia da fala associada à paralisia bilateral da face, palato mole, língua e musculatura da faringe, mas com preservação das funções reflexas e automáticas. Na síndrome de Worster-Drought (SWD), há predomínio da disartria. Descrevemos o caso de uma jovem de 18 anos, que apresenta os achados clínicos e radiológicos compatíveis com a forma intermediária de SFCM/SWD, acompanhados de movimentos involuntários (coréia e distonia), fato de ocorrência rara na descrição destas síndromes.

Dysarthria, progressive parkinsonian features and symmetric necrosis of putamen in a family with painful lipomas (Dercum disease variant).

We describe painful subcutaneous lipomatosis in four members of a two-generation family. Lipomas appeared in adulthood, were circumscribed, painful on touch and mainly localized to the trunk and proximal parts of the extremities. The disorder was associated with dysarthria, visual pursuit defect and progressive dystonia. MRI showed bilateral increasing cystic lesions in the basal parts of the putamen. No other abnormalities were detected. The lesions corresponded well with the clinical presentation in the patients. Investigation for mitochondrial disease with muscle biopsy and mitochondrial DNA gave normal results. No consistent biochemical changes were found. The disorder in this family was considered to differ from MERRF with lipomatous lesions and multiple symmetric lipomatosis but compatible with a Dercum disease variant.

Aortic valve papillary fibroelastoma.

Cardiac papillary fibroelastomas are rare tumors of the heart and affect primarily the cardiac valves. These lesions are responsible for embolic accidents that clinically manifest as neurological and cardiovascular symptoms. We describe the case of a 40-yr-old woman who presented with a neurological deficit caused by a papillary tumor of the aortic valve. Diagnosis was made by transesophageal echocardiaphy and the tumor was surgically removed.

Cerebellar axial postural tremor.

Three cases are presented with a predominantly axial postural tremor, without visible palatal tremor. Tremor varied in frequency between 3 and 10 Hz, often jumping from one frequency to another in this band. All three patients had evidence of cerebellar pathology. Cases 1 and 2 developed tremor in the setting of a late-onset cerebellar degeneration and after excision of a right cerebellar haemangioblastoma, respectively. Etiology was unclear in Case 3. Nevertheless, this patient had a cerebellar dysarthria. The tremor was similar to that sometimes seen in conjunction with palatal tremor, and EMG studies in Case 3 demonstrated a subclinical modulation of palatal muscle activity simultaneous with the truncal tremor. It is suggested that an axial postural tremor may be due to pathology of the cerebellum and its outflow pathways, despite the absence of clinically apparent palatal tremor.