Gait Disturbance Research Articles

Case report: Cerebrotendinous Xanthomatosis masquerading as adult ADHD in psychiatric practice

IntroductionThis case report details the presentation of a patient who initially sought consultation at a psychiatric outpatient clinic with symptoms suggestive of Attention-Deficit/Hyperactivity Disorder (ADHD); however, further evaluation revealed a diagnosis of Cerebrotendinous Xanthomatosis (CTX). CTX, a genetic disorder impacting lipid metabolism, is often overlooked in differential diagnoses due to its rarity. This case underscores the importance of considering alternative diagnoses in adults exhibiting ADHD-like symptoms without a childhood history of the disorder, adding to the literature on diagnostic complexities in psychiatric practice.Case presentationA 33-year-old man visited a psychiatric outpatient clinic with symptoms such as increasing distractibility and inattention, requesting an evaluation for adult ADHD. However, the absence of an ADHD history in childhood, coupled with progressive neurological symptoms and tendon xanthomas, led to further investigation. Comprehensive neurological assessments, including neuroimaging and genetic testing, ultimately diagnosed him with CTX. Treatment with chenodeoxycholic acid (CDCA) resulted in stabilization of cognitive function, although improvement in gait disturbances and tremors remained minimal.ConclusionThis case demonstrates that CTX can masquerade as adult ADHD, emphasizing the necessity for thorough assessments in atypical ADHD presentations. Psychiatrists should consider rare metabolic disorders like CTX in similar cases, which may enable timely intervention and improve patient outcomes.

Effect of vestibular rehabilitation on kinetic and kinematic parameters of gait in patients with multiple sclerosis: A single-blind randomized controlled study.

Multiple sclerosis (MS) patients frequently experience gait disturbances, which can be exacerbated in those with vestibular involvement. Various exercise approaches are available to address gait difficulties in this patient population, and the use of vestibular rehabilitation, in particular, has increased recently. However, the effects of this specific exercise approach on gait in MS patients remain unclear. Considering that gait comprises temporospatial, kinetic, and kinematic components, it is evident that existing research in this area is fairly limited. Therefore, our study aimed to evaluate the effect of a vestibular rehabilitation program compared to a conventional exercise program on kinetic and kinematic parameters of gait in patients with MS. MS patients aged 25-60 years with an EDSS score between 3.5 and 6.5 were included in the study. Participants were randomly assigned to either the vestibular rehabilitation group or the conventional exercise group. All participants underwent primary evaluation with Three-dimensional gait analysis and secondary assessments using the 2-Minute Walk Test, 10-Meter Walk Test, 5-Times Sit to Stand Test, and Visual Acuity Test. The study was completed with 22 participants [age: 45.18 ± 10.22, EDSS: 4.00 (3.50 - 5.00)]. Pelvic tilt range of motion, knee varus/valgus, ankle maximum external rotation, mean ankle rotation angles and the peak knee extension moment in the 30-60 % cycle of gait showed statistically greater improvement in the vestibular rehabilitation group compared to the conventional exercise group in post-treatment. After exercise trainings, there was no significant difference in temporospatial data between the two groups. It was concluded that supporting the rehabilitation programs of MS patients with VR exercises contributed to the improvement of various kinetic and kinematic parameters of gait.

Progressive functional training in patients who underwent jaw defect reconstruction using vascularized iliac flaps: A randomized controlled trial.

This trial was aimed at investigating the effects of progressive functional training on hip mobility, lower-limb stability, quality of life, and hip complications in patients who have undergone jaw defect reconstruction using vascularized iliac flaps. Patients who underwent reconstruction surgery with vascularized iliac flaps were randomly divided into control and training groups. The control group, according to routine nursing practice, only received activity and safety guidance after the operation. The training group received progressive functional training for functional exercise. The primary outcomes were donor area function-Harris hip score and the timed "Up and Go" test. Secondary outcomes were patients' quality of life, the hip visual analog scale, and other complications. Observations and evaluations were performed before the surgery and on postoperative day 7 and at months 1, 3, 6, and 12. The donor area function and quality of life of the patients in the training group were significantly improved at 1, 3, 6, and 12months after surgery, and the differences were statistically significant. The load-dependent pain in the training group was significantly reduced compared with that in the control group. The incidence rates of gait disturbance at postoperative months 3, and 6 in the training group were significantly lower than the corresponding rates in the control group (P < 0.05). Progressive functional training can accelerate the restoration of hip function and stability of lower-limb movement, alleviate gait disorders, relieve pain, and improve patients' quality of life.

Observational gait analysis.

The review is aimed at practising paediatricians who want to improve their clinical skills in observational gait analysis. Many paediatric complaints relate to problems of walking or limb alignment, and only a small proportion of these are pathological. With a deeper understanding of normal gait and a framework to conduct an observational analysis, the clinician can feel more confident diagnosing and recognizing those walking patterns that need further investigation. Advances in instrumented gait analysis over the last two decades have provided deeper insights into the mechanisms of walking, how to interpret gait deviations, and their effect on locomotion. This has helped improve the quality of observational gait analysis and, in many ways, defined its limitations. This review explains the components of normal gait and provides a structured approach to observational gait analysis. It also discusses the cause of limps and expands upon the importance of understanding rotational deformities. Finally, some tools to enhance the observational analysis are presented.

Progressive ataxia, cognitive decline, urinary incontinence, and unexplained hydrocephalus: a rare case of idiopathic normal pressure hydrocephalus in epileptic patient

Introduction: Idiopathic normal pressure hydrocephalus (iNPH) poses diagnostic challenges due to its overlapping symptoms with other neurodegenerative disorders. The clinical trial of gait disturbance, cognitive impairment, and urinary incontinence often mimics other conditions, making accurate diagnosis crucial. Case presentation: A 67-year-old male with a 40-year history of epilepsy presented with progressive gait abnormalities, cognitive decline, and bladder incontinence over 5 years. Initial evaluation revealed a magnetic gait, impaired short-term memory, and a Mini-Mental State Examination score of 17/30. MRI and CT scans showed ventriculomegaly without elevated cerebrospinal fluid (CSF) pressure. A lumbar puncture with a positive CSF tap test confirmed iNPH, and ventriculoperitoneal shunt surgery was performed, resulting in significant improvement in symptoms. Discussion: iNPH is characterized by the triad of gait disturbance, cognitive impairment, and urinary incontinence. Its diagnosis is primarily based on clinical presentation and neuroimaging. The CSF tap test is a crucial diagnostic tool, and shunt surgery remains the standard treatment. This case underscores the need for a high index of suspicion for iNPH in patients with atypical presentations and emphasizes the importance of long-term follow-up to monitor treatment efficacy. Conclusion: This case highlights the complexity of diagnosing iNPH, particularly in patients with comorbid conditions such as epilepsy. Thorough diagnostic evaluations and timely intervention are critical for improving patient outcomes. Long-term monitoring is essential to assess the effectiveness of treatment and manage potential complications.

Plasma proteomic characterization of motoric cognitive risk and mild cognitive impairment.

Motoric cognitive risk (MCR) is a pre-dementia syndrome characterized by mobility and cognitive dysfunction. This study conducted a proteome-wide study of MCR and compared the proteomic signatures of MCR to that of mild cognitive impairment (MCI). Participants were classified as MCR using a memory questionnaire and 4-meter walk. We measured 4877 plasma proteins collected during late-life and midlife. Multivariable logistic regression related each protein to late-life MCR/MCI. MCR-associated proteins were replicated internally at midlife and in an external cohort. Proteome-wide analysis (n=4076) identified 25 MCR-associated proteins. Eight of these proteins remained associated with late-life MCR when measured during midlife. Two proteins (SVEP1 and TAGLN) were externally replicated. Compared to MCI, MCR had a distinct and much stronger proteomic signature enriched for cardiometabolic and immune pathways. Our findings highlight the divergent biology underlying two pre-dementia syndromes. Metabolic and immune dysfunction may be a primary driver of MCR. MCR is defined by concurrent cognitive and gait dysfunction. MCR protein biomarkers have key roles in cardiometabolic and vascular function. MCR biomarkers are also associated with cerebrovascular disease and dementia. MCR and MCI demonstrate overlapping but divergent proteomic signatures.

Dual-task-related gait patterns as possible marker of precocious and subclinical cognitive alterations in Parkinson disease

Subtle gait and cognitive dysfunction are common in Parkinson’s disease (PD), even before most evident clinical manifestations. Such alterations can be assumed as hypothetical phenotypical and prognostic/progression markers. To compare spatiotemporal gait parameters in PD patients with three cognitive status: cognitively intact (PD-noCI), with subjective cognitive impairment (PD-SCI) and with mild cognitive impairment (PD-MCI) in order to detect subclinical gait differences. One hundred PD patients were consecutively enrolled and divided in three groups based on both the first item od MDS-UPDRS part I and an extensive neuropsychological evaluation: 41 PD-noCI, 15 PD-SCI and 44 PD-MCI. They were evaluated with gait analysis acquired in three different conditions (normal gait, motor and cognitive dual task). Spatiotemporal variables were extracted. A univariate statistical analysis (parametric ANOVA test or non-parametric Kruskal–Wallis test, as appropriate) with post-hoc analysis was carried out in order to evaluate the significant differences among the groups. In normal gait task, the three groups showed several differences, all due to the comparison between PD-MCI and PD-noCI, as disclosed by post-hoc analysis. In dual task conditions, mostly in the cognitive dual task, the three groups showed increased gait alterations that, at post-hoc analysis, mirrored the magnitude of cognitive dysfunction (PD-noCI < PD-SCI < PD-MCI). Peculiar prodromal gait patterns—especially those highlighted by cognitive dual task—could be considered possible markers to objectify self-reported symptoms-based construct, like SCI, and to early intercept subjects with different clinical evolutions and prognoses, even representing an innovative clustering/phenotyping tool for PD subtypes.

O-07 RAPIDLY PROGRESSIVE LATE-ONSET X-LINKED ADRENOLEUKODYSTROPHY WITH A NOVEL MUTATION

Abstract Introduction X-linked adrenoleukodystrophy (X-ALD; OMIM:300100) is a progressive neurodegenerative disorder resulting from a congenital defect in the ABCD1 gene, which encodes the adrenoleukodystrophy protein (ALDP). Deficiency of ALDP leads to impaired peroxisomal β-oxidation of very long chain fatty acids (VLCFAs), causing their accumulation in the nervous system, testes, and adrenal cortex. Clinical Case A 20-year-old male patient was referred to the neurology clinic with a progressive speech disorder, impaired coordination while eating, incoherent speech, prolonged periods of dissociation, and cognitive disability for 6 months. Also clumsiness, unintentional falls, and involuntary arm movements were observed. In fact, when a more detailed history was obtained from the family, they mentioned that the patient had shown signs of clumsiness over the past three years. The patient was born healthy with no underlying health conditions, had an average academic record, and no history of illicit drug use. His neurologic examination did not reveal motor deficits, and the patient was attentive and oriented to person, place, time and situation. However, spasticity was observed in both lower extremities, and it was noted that the patient exhibited difficulty in following commands and doing some movements. His brain MRI revealed bilateral frontoparietal white matter patterns consistent with X-ALD. After that he was referred to our clinic. Adrenal insufficiency was detected, and he was started on hydrocortisone therapy. Elevated very long-chain fatty acid levels were also found. Genetic testing revealed a novel mutation (NM_000033.4 c.778dup p.(Ala260GlyfsTer41) in the ABCD1 gene, which was also detected in the patient’s female sibling. Subsequently, he developed gait disturbances, paraparesis, and sphincter dysfunction. The patient exhibited rapid progression and is currently bedridden, being fed through a percutaneous enteral gastrostomy (PEG) in a three months. According to the evaluation of the patient, it was determined that he was not suitable for gene therapy or stem cell transplant due to the high Loes score (19), rapid progression, and his age. Conclusion X-ALD is a rare disease with significant morbidity and a high mortality rate. Typically, affected boys present between four and eight years of age. Our case involves late-onset and rapid progression with a novel mutation.

Anaesthetic Challenges in An Adolescent with Segawa Syndrome and Recurrent Aspiration Pneumonitis Scheduled For Laparoscopic Fundoplication. A Rare Presentation

Background: Segawa syndrome, or dopamine-responsive dystonia, is a rare genetic disorder that often presents with dystonia and gait disturbances. Literature on the anaesthetic management of these patients is generally limited, with especially minimal information on patients not treated with levodopa, particularly when multisystem complications are involved. Case: A 16-year-old adolescent male with Segawa syndrome, characterised by dystonia of face and neck muscles with global developmental delay, seizures, recurrent aspiration pneumonitis, and gastroesophageal reflux disease, underwent laparoscopic fundoplication. Anaesthesia was administered using propofol for induction, video laryngoscopy was used for intubation, and sevoflurane was used for maintenance. Despite respiratory challenges, including lower lobe infiltrates and a history of aspiration, careful intraoperative management ensured a stable course. Conclusions: This case highlights the need for a tailored anaesthetic approach in Segawa syndrome with multisystem involvement. It underscores the importance of vigilant respiratory management, cautious drug selection, and a multidisciplinary approach, particularly in patients not receiving levodopa therapy.

Gait Video-Based Prediction of Severity of Cerebellar Ataxia Using Deep Neural Networks.

Pose estimation algorithms applied to two-dimensional videos evaluate gait disturbances; however, a few studies have used this method to evaluate ataxic gait. The aim was to assess whether a pose estimation algorithm can predict the severity of cerebellar ataxia by applying it to gait videos. We video-recorded 66 patients with degenerative cerebellar diseases performing the timed up-and-go test. Key points from the gait videos extracted by a pose estimation algorithm were input into a deep learning model to predict the Scale for the Assessment and Rating of Ataxia (SARA) score. We also evaluated video segments that the model focused on to predict ataxia severity. The model achieved a root-mean-square error of 2.30 and a coefficient of determination of 0.79 in predicting the SARA score. It primarily focused on standing, turning, and body sway to assess severity. This study demonstrated that the model may capture gait characteristics from key-point data and has the potential to predict SARA scores. © 2025 International Parkinson and Movement Disorder Society.

Respiratory failure as main presentation sign of MAPT-related disorder.

The MAPT gene encodes Tau, a protein mainly expressed by neurons. Tau protein plays an important role in cerebral microtubule polymerization and stabilization, in axonal transport and synaptic plasticity. Heterozygous pathogenic variation in MAPT are involved in a spectrum of autosomal dominant neurodegenerative diseases known as taupathies, including Alzheimer's disease, Pick's disease, fronto-temporal dementia, cortico-basal degeneration and progressive supranuclear palsy. Taupathies are characterized by the constant presence of neuronal and/or glial aberrant Tau inclusions leading to atrophy and subsequent neuronal loss resulting in central nervous system degeneration. We report here two unrelated families in which segregates a MAPT-related neurodegenerative disorder marked by respiratory failure in the foreground. Nine individuals from two unrelated families were affected by a neurodegenerative disorder. Respiratory features were progressively worsening dyspnea-orthopnea with episodes of acute respiratory decompensation leading to hypercapnic coma or sudden death. A diaphragmatic paralysis was shown in three cases. Associated neurological signs were gait disturbances, bulbar signs including swallowing disorders and dysarthria, pyramidal signs, cognitive and behavioral disorders. ENMG inconstantly found signs of mild denervation. Post-mortem brain immuno-histochemical analysis in one patient revealed unusual composite neuronal Tau inclusions, significant neuronal loss and reactive gliosis, in cortical and subcortical regions, cranial nerves and anterior horn of spinal cord. The heterozygous missense variant c.2041C > T, p. (Pro681Ser) in MAPT was identified in both families by gene panel or exome sequencing. In the literature, four additional related patients carrying the same MAPT variant, in heterozygous state, also presented rapidly progressive respiratory failure and unusual composite neuronal Tau inclusions in anterior horn of spinal cord. Our observation allows to extend the phenotypic spectrum associated with MAPT variants describing a rapidly progressive respiratory failure, with episodes of exacerbations and premature death.

A real-world Pharmacovigilance study of brodalumab based on the FDA adverse event reporting system

Brodalumab, a humanized monoclonal antibody that targets the interleukin-17 receptor A, is primarily used to manage moderate-to-severe plaque psoriasis. Although it has demonstrated favorable efficacy and safety in clinical trials, the strict inclusion and exclusion criteria may not fully reflect its safety profile in real-world settings. As its use becomes more widespread in clinical practice, understanding its safety in real-world applications is crucial.This study employed disproportionality analysis to assess the safety of brodalumab by examining all adverse event reports that identified brodalumab as the primary suspected drug in the FDA Adverse Event Reporting System database since 2017. Techniques such as the Reporting Odds Ratio, Proportional Reporting Ratio, Multi-item Gamma Poisson Shrinker, and Bayesian Confidence Propagation Neural Network were utilized to analyze the adverse events associated with brodalumab. Additionally, the Weibull distribution was used to model the temporal risk of adverse events.The study identified several adverse reactions already listed on the drug’s label that showed positive signals, including arthralgia, headache, myalgia, suicidal ideation, oropharyngeal pain, injection site mass, and infections. Additionally, we found potential adverse reactions not noted on the drug’s label that exhibited positive signals, including depression, increased blood pressure, peripheral swelling, gait disturbance, inability to walk, stress, myocardial infarction, sepsis, uveitis, nephrolithiasis, and interstitial lung disease. Moreover, this analysis highlighted the critical need for vigilant monitoring of adverse events, especially during the first month following the initiation of treatment.This study provides initial insights into the real-world safety of brodalumab, confirming known adverse reactions and uncovering additional potential risks. The results deliver vital information that can assist clinicians in making informed decisions when prescribing brodalumab for psoriasis treatment.

Performance of a Two-Week Rehabilitation Improves Motor Function in Inpatients with Progressive Supranuclear Palsy: A Pre-Post Study.

Background: Progressive supranuclear palsy (PSP) is characterized by early postural instability and gait dysfunction, with frequent falls. Rehabilitation is an important therapeutic approach for motor dysfunction in patients with PSP. However, no conclusions have yet been drawn regarding the beneficial effects of rehabilitation in PSP, including the optimal duration of rehabilitation and differences in treatment effects among PSP subtypes. Herein, we investigated the effects of short-term rehabilitation and separately analyzed the effects on patients with PSP-Richardson's syndrome (RS) and PSP-progressive gait freezing (PGF). Methods: The participants underwent several therapeutic exercise programs individualized for each participant, performed over 2 weeks. Analysis was performed on 25 patients with PSP-RS and eight with PSP-PGF. Results: Short-term rehabilitation improved the Berg Balance Scale score in both the PSP-RS and PSP-PGF groups, step length on the symptom-dominant side in PSP-RS, the coefficient of variation of step length on the symptom-dominant side, and the stance phase of the Symmetry Index in PSP-PGF. Conclusions: Overall, this 2-week short-term rehabilitation intervention was shown to have beneficial effects on balance in patients with PSP-RS and PSP-PGF.

The clinical presentation and genetic diagnosis of Tangier disease in the pediatric age group.

Tangier disease (TD) is a rare autosomal recessive condition characterized by high-density lipoprotein (HDL) deficiency; involving symptoms of polyneuropathy, hyperplastic orange-yellow tonsils, vision disorder, and sudden cardiac death. The major clinical symptoms of TD may not all be co-present. This study evaluates patients diagnosed with TD in childhood to improve the possibility of early diagnosis ofasymptomatic cases by reporting our patients' clinical characteristics in order to minimize delayed diagnosis and emphasize the importance of TD, easily detected by HDL measurement. This retrospective and cross-sectional study investigated seven patients from three different families diagnosed with TD. Four of seven patients were girls. Median age was 5.7 years at symptom onset and 6.5 years at diagnosis. The index case presented with neuropathy findings, and TD was diagnosed based on genetic analysis. Low lipid levels were determined in a sibling and cousins with cardiac death and gait disturbance in the family. TD was confirmed by genetic investigation. Our other patients were evaluated due to anemia, thrombocytopenia, yellow-orange hypertrophy in the tonsils, and organomegaly. Diagnosis was established with genetic analysis and low HDL. No coronary artery disease or ocular involvement was observed in any case. All patients presenting with neuropathy and gait disorders should undergo detailed tonsil examinations and HDL tests. Genetic analysis should be carried out if necessary. Family screening should be recommended to patients with consanguineous marriages after diagnosis of TD.

Effect of acupuncture on the gait disturbance and hemodynamic changes in the prefrontal cortex: a study protocol for a randomized controlled trial.

Alzheimer's disease (AD) is characterized by cognitive impairment and behavioral impairment. The gait of AD patients is attracting the increasing attention. The aim of this randomized controlled trial (RCT) is to explore the effect of acupuncture on the cognitive function, gait performance, and hemodynamic changes in the prefrontal cortices. In this RCT, a total of 108 AD patients will be randomly assigned into acupuncture group or control group for 8 weeks. The primary outcome will be three-dimensional gait analysis and cerebral hemodynamics using functional near-infrared spectroscopy (fNIRS). Secondary outcomes will include Mini-Mental State Examination (MMSE), Montreal Cognitive Assessment (MoCA), and Barthel Index (BI). This trial is expected to explore the effect of acupuncture on cognitive function, gait performance, and hemodynamic changes in the prefrontal cortices for AD patients.

Are Electromyography Data a Fingerprint for Patients with Cerebral Palsy (CP)?

This study aimed to first investigate changes in electromyography (EMG) patterns after multilevel surgical treatment in patients with cerebral palsy (CP) and then to assess the connection between the measure of EMG and motor control indices and surgery outcomes. We analyzed retrospective EMG and gait data from 167 patients with CP before and after surgery and from 117 typically developed individuals as a reference group. The patients underwent at least one soft tissue surgery on their shank and foot muscles. Using Repeated Measures ANOVA, we examined the norm-distance (ND) of the kinematics, kinetics, and EMG patterns, in addition to the Kerpape-Rennes EMG-based Gait Index (EDI), EMG Profile Score (EPS), and Walking Dynamic Motor Control Index (DMC) before and after surgery. Participants were divided into different response groups (poor, mild, and good gait quality) according to their pre- and post-treatment Gait Deviation Index (GDI), using the K-means-PSO clustering algorithm. The gait and EMG indices were compared between the responders using the nonparametric Mann–Whitney test. The ND for all kinematics and kinetics parameters significantly improved (p-value &lt; 0.05) after the surgery. Regarding EMG, a significant reduction was only observed in the ND of the rectus femoris (p-value &lt; 0.001) and soleus (p-value = 0.006). Among the indices, DMC was not altered post-operatively (p-value = 0.88). Although EDI and EPS were consistent across responders with a similar pre-treatment gait, a higher DMC was significantly associated with a greater improvement, particularly in patients with poor gait (p-value &lt; 0.05). These findings indicate systematic changes in the EMG of patients with CP following surgery, which can also be demonstrated through indices. DMC is a measure that can potentially serve as a partial predictor of outcomes, particularly in patients with poor pre-operative gait. Future research should investigate the effects of different surgical strategies on the improvement of these patients.

Velopharyngeal Insufficiency and Impaired Tongue Movement Indicate Neuromuscular Disorders: A 10-Year Statistical Study in a Single Tertiary Institution.

Objectives: This study aimed to determine the positive predictive value of our NMD Suspicion Criteria in the diagnosis of NMDs. Other clinical factors routinely examined in our voice and swallowing examinations were also investigated to see if they had a significant association with the diagnosis of NMDs. Methods: This study retrospectively investigated the medical charts of patients who visited our Voice and Swallowing outpatient clinic between 2013 and 2022. Patients with previously diagnosed NMDs were excluded from the analysis. Among the remaining patients, we included those that were referred to neurologists for further evaluation due to suspicion of having an NMD based on the NMD Suspicion Criteria. The patients were then divided into groups according to the status of their diagnosis within 2 years of referral as "diagnosed", "denied", or "observed". These three groups of patients were then compared according to the following clinical findings; velopharyngeal insufficiency (VPI), tongue atrophy, impaired tongue movement, dysarthria, vocal fold mobility impairment, dysphagia, involuntary movement, gait disturbances, weight loss, and a sense of fatigue in order to see if they were significantly associated with the diagnosis of NMDs. Results: Of 3769 outpatients without a confirmed diagnosis of NMDs, 37 were referred to neurologists for suspected NMDs, and 19 (51%) were diagnosed with NMDs. VPI and impaired tongue movement were significant diagnostic factors for NMDs (p = 0.014, 0.033). VPI during speech (p = 0.045) was more strongly associated with the diagnosis of NMDs than VPI during swallowing (p = 0.076). Fatigue was a significant related factor for other diseases (non-NMDs) causing Voice and Swallowing problems (p = 0.049). Conclusions: In the outpatient clinic setting, suspicion of NMD should be raised, particularly when VPI and impaired tongue movement are observed, prompting a thorough assessment of velopharyngeal closure during both speech and swallowing.

Demyelinating neuropathy as the initial presentation of familial E200K Creutzfeldt-Jakob disease in two patients.

To describe peripheral neuropathy associated with familial Creutzfeldt-Jakob disease. We report two unrelated patients with genetic Creutzfeldt-Jakob disease with demyelinating peripheral neuropathy as initial presentation, with a comprehensive clinical, electrophysiological and neuropathological description. Both patients exhibited gait disturbance and paresthesia. Electrodiagnostic studies revealed demyelinating abnormalities with motor conduction blocks suggestive of chronic inflammatory demyelinating polyradiculoneuropathy, with abnormal plexus MRI and elevated CSF protein levels. One of them had pes cavus and a late-onset Charcot-Marie-Tooth (CMT) disease was also initially hypothesized. Central nervous system involvement manifested 1-2 years after the onset of peripheral symptoms. Both patients had a heterozygous E200K mutation in the PRNP gene. Postmortem neuropathological examinations showed PrPSc deposits in the peripheral nervous system, particularly in Schwann cells. Peripheral neuropathy in E200K genetic forms of Creutzfeldt-Jakob disease can be inaugural and mimic chronic inflammatory demyelinating polyradiculoneuropathy.

The added value of b0-DWI analysis in the diagnosis of cavitating lacunes when T2-weighted spin-echo is unavailable.

Silent brain infarcts, sometimes appearing as incidental lacunes in patients with unknown history of vascular event, are linked to dementia, gait disturbances and depression. We observed that some cavitating lacunes were only visible on b0-diffusion-weighted-imaging (b0-DWI: T2-weighted without diffusion gradients) when T2-weighted-spin-echo (T2-SE) was unavailable. We aimed to evaluate the additional value of b0-DWI in detecting cavitating lacunes. We retrospectively included patients aged≥65years who underwent brain MRI (1.5T or 3T) for various indications, with FLAIR (Fluid Attenuated Inversion Recovery) and b0-DWI, without T2-SE. Patients with multiple sclerosis, lacking b0-DWI or with low-quality MRI were excluded. Vascular risk factors, white matter lesions (Fazekas scale) and mention of lacune in the radiology report were inquired. Two radiologists independently analyzed all b0-DWI sequences, followed by FLAIR. Among 306 subjects, at least one lacune was observed in 149 (48.7%): 54 (36.2%) supratentorial, 32 (21.5%) infratentorial and 63 (42.3%) both. Of these, 119 (79.9%) had vascular risk factors and 135 (90.6%) had white matter lesions. 33 (10.8%) were exclusively detected on b0-DWI (b0-DWI-lacunes), of which 5 (1.6%) without vascular factor, and 20 (6.5%) were unmentioned in the report. Among b0-DWI-lacunes, 15 (45.5%) were supratentorial, 9 (27.3%) infratentorial and 9 (27.3%) both, with 28 (84.8%) associated with white matter lesions. Inter-rater reliability for b0-DWI-lacunes diagnosis was good (95.6% agreement, kappa=0.717, CI95% [0.568-0.869]). In our study, 10.8% b0-DWI-lacunes were not visible on FLAIR, and 6.5% were unmentioned in the neuroradiology report. Examining FLAIR alongside b0-DWI improves diagnostic performance for cavitating lacune detection and contributes to vascular prevention.

Incidence of idiopathic syrinx in pediatric patients diagnosed with VACTERL association.

While the association of a syrinx with a tethered spinal cord in the context of VACTERL (vertebral defects [V], imperforate anus or anal atresia [A], cardiac malformations [C], tracheoesophageal defects [T] with or without esophageal atresia [E], renal anomalies [R], and limb defects [L]) association is known, the incidence of idiopathic syrinxes among these patients has not previously been reported. The authors aimed to characterize the incidence of syrinxes and the pattern of congenital anomalies in pediatric patients with VACTERL association, with a specific focus on the presence of idiopathic syrinxes in this population. An institutional database was retrospectively queried for all pediatric patients with VACTERL association. Patients were assessed for the presence of a syrinx. Those with no accompanying lesion to which the syrinx could be ascribed were designated idiopathic. Descriptive statistics and qualitative analyses characterized the clinical presentation and outcomes of this population. The authors retrospectively identified 186 patients between 1993 and 2023 with VACTERL association. Of these 186 patients, 141 (75.8%) had a tethered spinal cord and 44 (23.7%) had a syrinx. Most syrinxes could be ascribed to the presence of a tethered spinal cord and/or Chiari malformation; however, 4 (9.1%) of the 44 appeared idiopathic, suggesting the incidence of idiopathic syrinxes in this patient population may be as high as 2.2% (4/186). Most patients remained asymptomatic aside from a single patient who presented with mild gait dysfunction that resolved over time. All syrinxes were managed conservatively, and all but one decreased or remained stable in size on follow-up imaging. Although limited, current estimates suggest the general incidence of an idiopathic syrinx is between 5.6 and 8.4 per 100,000 people; these findings in a pediatric cohort with VACTERL association suggest an incidence of 2200 per 100,000 (i.e., 2.2%). Thus, an idiopathic syrinx may be 200-400 times as prevalent in the pediatric VACTERL population.