A Physical Rehabilitation Approach for Parkinson's Disease: A Systematic Literature Review.

Parkinson's disease (PD) is one of the most common neurological ailments. With diverse motor affectations (postural instability, resting tremor, bradykinesia, and rigidity), people with Parkinson's disease (PwP) have a broad spectrum of non-motor symptoms. These include autonomic function changes, cognitive deterioration, neuropsychiatric difficulties, and sleep interruptions. Psychological disturbances, such as anxiety and sadness, are common among PwP. This discomfort is often accompanied by a decrease in general functioning, both at work and in social contacts. Furthermore, people who are experiencing psychological distress have a quick decrease in both physical and cognitive capacities. Furthermore, Pwp who also suffer from anxiety and depression are more likely to acquire dementia. It is worth noting that studies have shown good outcomes in the treatment of physical disabilities in PWP and the various therapeutics available for each affected body part, such as in the legs when they have walking problems, resting tremor in their hands, or micrography, which is a common symptom in these patients. The medical research databases PubMed/Medline, Google Scholar, and the Cochrane Library were used to look for relevant materials. Upon meticulous scrutiny, a thorough investigation was conducted on the papers at hand. A total of 10 publications were meticulously selected based on stringent qualifying criteria. The present investigation examines various perspectives regarding the physical rehabilitation of individuals diagnosed with PD. The majority of therapeutic interventions employed revolve around cutting-edge technologies, such as virtual reality (VR), combined with exercise regimens. These interventions have demonstrated notable statistical significance in terms of enhancing various physical aspects, including endurance, performance, gait capacity, perception, and overall independence in daily life activities. One of the gathered studies makes use of the therapeutic benefits of yoga to help PwP deal with their anxiety and improve their mental health. Based on the aforementioned information, further investigation is required to ascertain the optimal approach for physical rehabilitation management and develop diverse strategies aimed at assisting individuals with PD in attaining physical autonomy.

Marchiafava-Bignami Disease: A Rare Association With Dysdiadochokinesia and Ataxic Gait.

Marchiafava-Bignami disease (MBD) is a rare neurological disorder characterized by demyelination and necrosis of the corpus callosum. The non-specific signs and symptoms associated with MBD including dysarthria, impaired walking, pyramidal signs, primitive reflexes, seizures, incontinence, sensory symptoms, gaze palsies, and altered mental state result in a challenging diagnosis. Here, we report the case of a 64-year-old female presenting with dizziness, gait ataxia, and a history of recurrent falls for several months. Initial blood tests indicated anaemia, hypokalemia, hypomagnesemia, and mildly elevated inflammatory markers. Her presentation was initially attributed to a multifactorial aetiology, including a urinary tract infection, orthostatic hypotension, and electrolyte imbalances; however, on correction of reversible causes, her symptoms persisted. Moreover, further examination revealed right-hand dysdiadochokinesia. Subsequent brain MRI revealed fluid-attenuated inversion recovery hyperintensity within the corpus callosum and a right-sided pericallosal white matter hyperintensity. Neuro-radiology multidisciplinary team reported these findings consistent with MBD. Management with vitamin B supplementation was promptly initiated alongside alcohol cessation advice. She was also reviewed by physiotherapy teams. This case adds to the paucity of literature on MBD.

[A case of ataxic gait disturbance due to 1-bromopropane neurotoxicity].

A 55-year-old man presented a slowly progressive sensory disorder, predominantly in both lower limbs, and gait disturbance. Neurological examinations revealed abnormal sensation and spasticity in both lower limbs, and a wide-based gait. Although examination revealed mild hyperchloremia and decreased motor conduction velocity in the peroneal nerve, head and whole spine MRI, and spinal fluid examination were normal. His job history revealed he had been engaged in metal cleaning work using 1-bromopropane (1-BP) for three years. His serum bromide concentration was increased to 175.6 mg/l (standard value: 5 or less), so we diagnosed him as having 1-BP neurotoxicity. The serum bromide concentration decreased after avoidance of exposure to 1-BP, but the gait disturbance remained. It was considered that we should obtain a detailed job history and measure the serum bromide concentration in patients with a sensory disorder in the extremities and gait disturbance of unknown origin.

Autoimmune Polyglandular Syndrome with Refractory Gait Disturbance.

Autoimmune polyglandular syndrome (APS) causes autoimmune diseases of multiple organs and can also present with neurological symptoms. We here report a 58-year-old man who presented with progressive gait disturbance that had started 7 years ago. He had spasticity, reduced deep sensations, and truncal cerebellar ataxia. Laboratory examinations revealed autoantibody-related cobalamin deficiency and the presence of anti-thyroid antibodies and anti-glutamic acid decarboxylase antibodies. His gait worsened after cobalamin replenishment, but additional steroid therapy was effective. APS can cause refractory gait disturbance that requires not only cobalamin replenishment but also immunotherapy.

Recurrent Meningothelial Meningioma With Multiple Extensions: A Complex Case Study.

This case report presents a comprehensive analysis of a 67-year-old patient diagnosed in 2017 with meningothelial meningioma, focusing on the challenges of managing such tumors and their neurological implications. Meningiomas, being the most common benign intracranial neoplasms, have a notable research gap regarding their association with seizures and motor deficits. This patient, who had a history of depressive disorder, persistent cephalalgia syndrome, and ataxic gait, initially presented with symptoms including ataxic gait, confusion, and headache. Imaging revealed a large, hyperdense right frontal meningioma with a significant mass effect. Following surgical resection, the patient experienced notable neurological improvement. However, in 2023, the patient re-presented with bradypsychia, bradykinesia, and memory disorders, indicating a recurrent meningioma. This case exemplifies the recurrence and complex management of meningiomas, particularly in elderly patients, and highlights the importance of individualized treatment strategies. Surgical resection remains the primary treatment approach, supplemented by radiotherapy in cases of recurrence or incomplete resection. The case underscores the need for advancements in therapeutic approaches to mitigate recurrence risks and enhance patient outcomes in meningioma management. This is especially pertinent given the tumor's predilection for older females and its varied neurological manifestations, such as ataxic gait and seizures.

Compound Heterozygous Mutations in PNKP Gene in an Iranian Child with Microcephaly, Seizures, and Developmental Delay.

BACKGROUND: Pathogenic variants within polynucleotide kinase 3'phosphatase (PNKP) gene cause microcephaly, seizures, and developmental delay (MCSZ) and ataxia-oculomotor apraxia type 4 (AOA4) disorders due to unrepaired DNA lesions. METHODS: Whole exome sequencing was performed on a child with microcephaly, seizures, developmental delay, callosal dysgenesis on MRI, intellectual disability, speech disorder, hyperactivity, and ataxic gait. RESULTS: Two heterozygous mutations in the PKNP gene, a novel intronic frameshift variant c.1298 + 33_1299-24del and a previously reported duplication, c.1253_1269dup; p.Thr424Glyfs*49 in exon 14 were identified. Both of these mutations affect the DNA kinase domain of PKNP. CONCLUSIONS: Our finding along with previous studies provide more evidence of the clinical heterogeneity of diseases caused by mutations in PNKP which makes its clinical diagnosis difficult and highlights the importance of genetic testing to unravel the cause of these diseases.

Femoral mononeuropathy in Lyme disease: a case report.

BACKGROUND: Peripheral neuropathy is a common complication of Lyme disease. Cranial mononeuropathy, particularly that affecting the facial nerve, can be a presenting symptom, and at times, it can be associated with polyradiculopathies or plexopathies. However, isolated femoral neuropathy has not yet been reported in Lyme disease; therefore, we felt the need to present this case. CASE PRESENTATION: Laboratory investigations were performed on a 67-year-old man living in a region at high risk for Lyme disease after he developed erythema migrans on his chest, accompanied by the swelling of his left knee joint. A Western blot immunoglobulin assay was performed, including a screening for connective tissue disorders. Positive serological test results led to the administration of oral doxycycline therapy at a dosage of 100 mg twice daily. Shortly afterwards, he developed gait difficulties and frequent falls. The clinical examination and electrodiagnostic studies were consistent with femoral neuropathy. To look for etiologies other than Lyme disease, radiographic studies of his lumbar spine, pelvic cavity, retroperitoneal compartment, and hips were conducted. In addition, he was screened for diabetes. However, no other etiologies were found to explain the femoral neuropathy. Eventually, he recovered, and he was able to return to work. CONCLUSION: We firmly believe that the femoral neuropathy and Lyme disease seen in this patient were causally related.

Phenotypic features of 1q41q42 microdeletion including WDR26 and FBXO28 are clinically recognizable: The first case from Japan.

1q41q42 microdeletion syndrome has been established in 2007. Since then, more than 17 patients have been reported so far. The reported deletions showed random breakpoints and deletion regions are aligned as roof tiles. Patients with 1q41q42 microdeletion syndrome show intellectual disability, seizures, and distinctive features. Many genotype-phenotype correlation studies have been performed and some genes included in this region have been suggested as potential candidate genes. Recently, de novo variants in WDR26 and FBXO28 were identified in patients who showed consistent phenotypes with 1q41q42 microdeletion syndrome. Thus, both genes are now considered as the genes possibly responsible for 1q41q42 microdeletion syndrome. Here, the first case of a Japanese patient with a de novo 1q41q42 microdeletion is reported. Owing to the distinctive features, this syndrome would be clinically recognizable.

Potential of Hybrid Assistive Limb Treatment for Ataxic Gait Due to Cerebellar Disorders Including Hemorrhage, Infarction, and Tumor.

Cerebellar hemorrhage (CH) is a severe life-threatening disorder, and surgical treatment is often required in an emergency situation. Even in cases in which the surgical procedure is successful, functional recovery is likely to be delayed because of cerebellar symptoms such as ataxia and gait disturbance. Here, we briefly review the efficacy of hybrid assistive limb (HAL) treatment in neurosurgical practice and propose a new comprehensive treatment strategy for CH to facilitate early neurological recovery. We have experienced cases of ataxic gait due to various etiologies, treated with rehabilitation using the HAL, and our data showed that HAL treatment potentially improves ataxic gait and balance problems. HAL treatment seems to be an effective and promising treatment modality for selected cases. Future studies should evaluate gait appearance and balance, in addition to walking speed, to assess improvement in cerebellar symptoms.

The importance of central auditory evaluation in Friedreich's ataxia / A importância da avaliação auditiva central na ataxia de Friedreich

ABSTRACT Objective To assess central auditory function in Friedreich's ataxia. Methods A cross-sectional, retrospective study was carried out. Thirty patients underwent the anamnesis, otorhinolaryngology examination, pure tone audiometry, acoustic immittance measures and brainstem auditory evoked potential (BAEP) assessments. Results The observed alterations were: 43.3% in the pure tone audiometry, bilateral in 36.7%; 56.6% in the BAEP test, bilateral in 50%; and 46.6% in the acoustic immittance test. There was a significant difference (p < 0.05) in the comparison between the tests performed. Conclusion In the audiological screening, there was a prevalence of the descending audiometric configuration at the frequency of 4kHz, and absence of the acoustic reflex at the same frequency. In the BAEP test, there was a prevalence of an increase of the latencies in waves I, III and V, and in the intervals of interpeaks I-III, I-V and III-V. In 13.3% of the patients, wave V was absent, and all waves were absent in 3.3% of patients.

RESUMO Objetivo Avaliar a função auditiva central na ataxia de Friedreich (AFRD). Métodos Foi realizado um estudo retrospectivo de corte transversal. 30 pacientes realizaram anamnese, avaliações otorrinolaringológica, audiológica, imitanciométrica e do potencial evocado auditivo de tronco encefálico (PEATE). Resultados As alterações observadas foram: 43,3% no exame audiométrico sendo 36,7% dos casos, bilateralmente; 56,6% na avaliação do PEATE com 50% dos casos, bilateralmente e 46,6% no exame imitanciométrico. Houve diferença significativa (p < 0,05) na comparação entre os exames realizados. Conclusão No exame audiológico, ocorreu uma preponderância maior da configuração audiométrica descendente a partir da freqüência de 4kHz e ausência do reflexo acústico na mesma frequência. No exame do PEATE, houve prevalência do aumento das latências nas ondas I, III e V, e nos intervalos dos interpicos I-III, I-V e III-V. Em 13,3% dos casos, a onda V estava ausente, e em 3,3% dos casos, todas as ondas estavam ausentes.

Quantitative Gait Analysis in Patients with Huntington's Disease.

OBJECTIVE: Gait disturbance is the main factor contributing to a negative impact on quality of life in patients with Huntington's disease (HD). Understanding gait features in patients with HD is essential for planning a successful gait strategy. The aim of this study was to investigate temporospatial gait parameters in patients with HD compared with healthy controls. METHODS: We investigated 7 patients with HD. Diagnosis was confirmed by genetic analysis, and patients were evaluated with the Unified Huntington's Disease Rating Scale (UHDRS). Gait features were assessed with a gait analyzer. We compared the results of patients with HD to those of 7 age- and sex-matched normal controls. RESULTS: Step length and stride length were decreased and base of support was increased in the HD group compared to the control group. In addition, coefficients of variability for step and stride length were increased in the HD group. The HD group showed slower walking velocity, an increased stance/swing phase in the gait cycle and a decreased proportion of single support time compared to the control group. Cadence did not differ significantly between groups. Among the UHDRS subscores, total motor score and total behavior score were positively correlated with step length, and total behavior score was positively correlated with walking velocity in patients with HD. CONCLUSION: Increased variability in step and stride length, slower walking velocity, increased stance phase, and decreased swing phase and single support time with preserved cadence suggest that HD gait patterns are slow, ataxic and ineffective. This study suggests that quantitative gait analysis is needed to assess gait problems in HD.

Principal component analysis for ataxic gait using a triaxial accelerometer.

BACKGROUND: It is quite difficult to evaluate ataxic gait quantitatively in clinical practice. The aim of this study was to analyze the characteristics of ataxic gait using a triaxial accelerometer and to develop a novel biomarker of integrated gate parameters for ataxic gait. METHODS: Sixty-one patients with spinocerebellar ataxia (SCA) or multiple system atrophy with predominant cerebellar ataxia (MSA-C) and 57 healthy control subjects were enrolled. The subjects were instructed to walk 10 m for a total of 12 times on a flat floor at their usual walking speed with a triaxial accelerometer attached to their back. Gait velocity, cadence, step length, step regularity, step symmetry, and degree of body sway were evaluated. Principal component analysis (PCA) was used to analyze the multivariate gait parameters. The Scale for the Assessment and Rating of Ataxia (SARA) was evaluated on the same day of the 10-m walk trial. RESULTS: PCA divided the gait parameters into four principal components in the controls and into two principal components in the patients. The four principal components in the controls were similar to those found in earlier studies. The second principal component in the patients had relevant factor loading values for gait velocity, step length, regularity, and symmetry in addition to the degree of body sway in the medio-lateral direction. The second principal component score (PCS) in the patients was significantly correlated with disease duration and the SARA score of gait (ρ = -0.363, p = 0.004; ρ = -0.574, p < 0.001, respectively). CONCLUSIONS: PCA revealed the main component of ataxic gait. The PCS of the main component was significantly different between the patients and controls, and it was well correlated with disease duration and the SARA score of gait in the patients. We propose that this score provides a novel method to assess the severity of ataxic gait quantitatively using a triaxial accelerometer.

Quantitative Gait Analysis in Patients with Huntington's Disease

OBJECTIVE: Gait disturbance is the main factor contributing to a negative impact on quality of life in patients with Huntington’s disease (HD). Understanding gait features in patients with HD is essential for planning a successful gait strategy. The aim of this study was to investigate temporospatial gait parameters in patients with HD compared with healthy controls. METHODS: We investigated 7 patients with HD. Diagnosis was confirmed by genetic analysis, and patients were evaluated with the Unified Huntington’s Disease Rating Scale (UHDRS). Gait features were assessed with a gait analyzer. We compared the results of patients with HD to those of 7 age- and sex-matched normal controls. RESULTS: Step length and stride length were decreased and base of support was increased in the HD group compared to the control group. In addition, coefficients of variability for step and stride length were increased in the HD group. The HD group showed slower walking velocity, an increased stance/swing phase in the gait cycle and a decreased proportion of single support time compared to the control group. Cadence did not differ significantly between groups. Among the UHDRS subscores, total motor score and total behavior score were positively correlated with step length, and total behavior score was positively correlated with walking velocity in patients with HD. CONCLUSION: Increased variability in step and stride length, slower walking velocity, increased stance phase, and decreased swing phase and single support time with preserved cadence suggest that HD gait patterns are slow, ataxic and ineffective. This study suggests that quantitative gait analysis is needed to assess gait problems in HD.

Descripción cinemática de la marcha en pacientes con ataxia espinocerebelosa de tipo 2 / Biomechanical phenomenum description of gait in patients with type 2 spinocerebellar ataxia

Se realizó un estudio descriptivo y transversal de 23 pacientes con diagnóstico clínico, neurológico y genético de ataxia espinocerebelosa de tipo 2, atendidos en la consulta de Neurogenética del Hospital General Docente "Dr. Juan Bruno Zayas Alfonso" de Santiago de Cuba, desde enero de 2013 hasta diciembre de 2015, a fin de obtener un grupo reducido de parámetros espaciotemporales de la marcha en dichos pacientes, mediante la técnica videográfica. También se incluyó una muestra de 35 individuos sanos mayores de 18 años, escogidos al azar. Se observaron diferencias significativas entre las variables cinemáticas extraídas de la evaluación de la marcha de sujetos enfermos y sanos. El método utilizado permitió determinar que el tiempo de evolución de la enfermedad influye en la disminución de la velocidad de marcha y que aumenta el ancho de paso y las oscilaciones de la cadera

A descriptive and cross-sectional study of 23 patients with clinical, neurological and genetic diagnosis of type 2 spinocerebellar ataxia, assisted in the Neurogenetic Service of "Dr. Juan Bruno Zayas Alfonso" Teaching General Hospital in Santiago de Cuba, was carried out from January, 2013 to December, 2015, in order to obtain a reduced group of gait spacetemporal parameters in these patients, by means of the videographic technique. A sample of 35 healthy individuals over 18 years chosen at random, was also included. Significant differences between the biomechanical phenomenum variables extracted from the evaluation of gait in sick and healthy people were observed. The method used allowed to determine that the course of the disease influences in the decrease of gait speed and increases the step width and the hip oscillations

Reversible pseudoathetosis and sensory ataxic gait caused by cervical spondylotic myelopathy.

Proprioceptive deafferentation of spinal cord origin can cause pseudoathetosis, sensory ataxic gait, or both. The co-existence of pseudoathetosis and sensory ataxic gait caused by a surgically treatable condition of the spinal cord has been rarely reported. An 80-year-old man with cervical spondylotic myelopathy presented with severe sensory ataxic gait which confined him to a wheelchair. He also had poor control of his hands due to the pseudoathetoid movements of the fingers, which prevented him from sustaining constant muscle contraction. He underwent C3-4 and C4-5 anterior discectomies and anterior fusion. His neurological deficits gradually improved after the decompressive surgery. About 7months postoperatively, he was totally independent in activities of daily living and needed no mobility aid. This case highlights the clinical importance of recognizing a surgically treatable and reversible condition of the spinal cord that causes pseudoathetosis and sensory ataxic gait.

Frequencies of initial gait disturbances and falls in 100 Wilson's disease patients.

Wilson's disease (WD) is an inherited copper metabolism disorder. Gait disturbances may present with both extrapyramidal and cerebellar patterns. The frequencies of particular types of gait abnormalities have not been established; thus, the aim of the present study was to determine the occurrence of initial gait disturbances among our neurological WD patients. We analyzed 103 WD patients with neurological features at the time of diagnosis, between 2005 and 2014. The neurological and gait assessments were based on the Unified Wilson's Disease Score Scale (UWDRS), from which, we distinguished three main patterns of gait: dystonic, ataxic, or Parkinsonian. All types of gait impairment were assessed using four stages of severity (0=normal, 4=severe). We also obtained each patient's history of falls. Three patients had severe dystonia of limbs and were unable to stand or walk. Gait abnormalities were noted in 59% (59/100) of the remaining group of patients. The most common observed pattern was ataxic gait (45%; 27/59), which presented as impaired tandem in most cases. A mixed gait impairment was observed in 25% (15/59) of patients (ataxic, dystonic, and Parkinsonian, n=8; ataxic and Parkinsonian, n=7), a Parkinsonian gait in 18% (11/59), and a dystonic gait in 10% (6/59) of patients. Falls were noted in 35% of patients, but were occasionally observed in most cases. Gait disturbances are frequent in WD, and reflect the involvement of many brain structures.

Síndrome de opsoclonia-mioclonia-ataxia em paciente com AIDS / Opsoclonus-myoclonus-ataxia syndrome in an AIDS patient

É relatado aqui o caso de uma mulher de 38 anos com AIDS que desenvolveu a síndrome de opsoclonia-mioclonia-ataxia em um período diferente dos outros casos já relatados na literatura. A síndrome de opsoclonia-mioclonia-ataxia já tinha sido relatada como manifestação inicial de AIDS, assim como no momento da soroconversão de HIV e na síndrome de reconstituição imune. Este caso é único, uma vez que a paciente tinha contagem elevada de CD4 e carga viral negativa no momento em que a síndrome de opsoclonia-mioclonia-ataxia ocorreu.

We report the case of a 38-year-old woman with AIDS who developed opsoclonus-myoclonus-ataxia syndrome during a period different from other cases reported in literature. Opsoclonus-myoclonus-ataxia syndrome had already been reported as the initial neurological presentation of AIDS, as well as at the time of HIV-seroconversion and immune reconstitution syndrome. Our case is unique since the patient had an elevated CD4 count and negative viral load in the period when the opsoclonus-myoclonus-ataxia syndrome occurred.