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1.
Article in English | MEDLINE | ID: mdl-35975211

ABSTRACT

A 55-year-old male presented with apraxia of gait with exaggerated upper limb movement with relative preservation of cognition and mild spasticity of limbs. His investigations reveal posterior-predominant leukodystrophy in brain magnetic resonance imaging (MRI) and compound heterozygous mutations in mitochondrial alanyl-transfer RNA synthetase 2 (AARS2) by next generation sequencing. His asymptomatic brother also has MRI changes with subtle mild pyramidal signs. AARS2 mutation is a rare cause of mitochondrial encephalopathy which may give rise to leukodystrophy with premature ovarian failure, infantile cardiomyopathy, lung hypoplasia and myopathy. Gait apraxia as primary presenting feature of this rare variant of mitochondrial encephalomyopathy is hitherto un-reported.


Subject(s)
Alanine-tRNA Ligase , Leukoencephalopathies , Mitochondrial Encephalomyopathies , Alanine-tRNA Ligase/genetics , Gait Apraxia , Humans , Leukoencephalopathies/complications , Leukoencephalopathies/diagnostic imaging , Leukoencephalopathies/genetics , Male , Middle Aged , Upper Extremity
2.
Fluids Barriers CNS ; 19(1): 51, 2022 Jun 23.
Article in English | MEDLINE | ID: mdl-35739555

ABSTRACT

BACKGROUND: Idiopathic normal pressure hydrocephalus (iNPH) is a neurological condition with gait apraxia signs from its early manifestation. Ventriculoperitoneal shunt (VPS) is a surgical procedure available for treatment. The Cerebrospinal fluid Tap Test (CSF-TT) is a quick test used as selection criterion for VPS treatment. Its predictive capacity for VPS outcomes is still sub judice. This study is aimed to test the hypothesis that wearable motion sensors provide valid measures to manage iNPH patients with gait apraxia. METHODS: Forty-two participants of the Bologna PRO-Hydro observational cohort study were included in the analyses. The participants performed the Timed Up and Go (TUG) and the 18 m walking test (18mW) with inertial sensors at baseline, three days after the CSF-TT, and six months after VPS. 21 instrumental variables described gait and postural transitions from TUG and 18mW recordings. Furthermore, participants were clinically assessed with scales (clinical variables). We tested the hypothesis by analysing the concurrent validity of instrumental and clinical variables, their individual- and group-level responsiveness to VPS, and their predictive validity for VPS outcomes after CSF-TT. RESULTS: The instrumental variables showed moderate to high correlation with the clinical variables. After VPS, most clinical and instrumental variables showed statistically significant improvements that reflect a reduction of apraxic features of gait. Most instrumental variables, but only one clinical variable (i.e., Tinetti POMA), had predictive value for VPS outcomes (significant adjusted R2 in the range 0.12-0.70). CONCLUSIONS: These results confirm that wearable inertial sensors may represent a valid tool to complement clinical evaluation for iNPH assessment and prognosis.


Subject(s)
Gait Disorders, Neurologic , Hydrocephalus, Normal Pressure , Gait , Gait Apraxia/surgery , Gait Disorders, Neurologic/diagnosis , Gait Disorders, Neurologic/etiology , Humans , Hydrocephalus, Normal Pressure/cerebrospinal fluid , Ventriculoperitoneal Shunt
3.
Neurocase ; 28(2): 231-234, 2022 04.
Article in English | MEDLINE | ID: mdl-35491765

ABSTRACT

Clinical findings in cases of injury circumscribed with SMA is no consensus. We report the case of a 60-year-old male with circumscribed SMA injury who showed freezing of gait, and shuffling gait. Twenty-one days after onset, the patient showed difficulties with the left leg swing in gait initiation (freezing of gait). In steady-state gait, the stride of the left leg swing was short (shuffling gait). Thirty-four days after onset, this phenomenon was not observed during gait. Circumscribed SMA injury can cause gait apraxia, including freezing and shuffling gait, such as in extensive SMA injury in the medial frontal cortex.


Subject(s)
Gait Disorders, Neurologic , Motor Cortex , Parkinson Disease , Gait , Gait Apraxia/complications , Gait Disorders, Neurologic/etiology , Humans , Male , Middle Aged , Parkinson Disease/complications
4.
J Neuroeng Rehabil ; 17(1): 144, 2020 10 28.
Article in English | MEDLINE | ID: mdl-33115487

ABSTRACT

BACKGROUND: The past decade has seen the emergence of rehabilitation treatments using virtual reality. One of the advantages in using this technology is the potential to create positive motivation, by means of engaging environments and tasks shaped in the form of serious games. The aim of this study is to determine the efficacy of immersive Virtual Environments and weaRable hAptic devices (VERA) for rehabilitation of upper limb in children with Cerebral Palsy (CP) and Developmental Dyspraxia (DD). METHODS: A two period cross-over design was adopted for determining the differences between the proposed therapy and a conventional treatment. Eight children were randomized into two groups: one group received the VERA treatment in the first period and the manual therapy in the second period, and viceversa for the other group. Children were assessed at the beginning and the end of each period through both the Nine Hole Peg Test (9-HPT, primary outcome) and Kinesiological Measurements obtained during the performing of similar tasks in a real setting scenario (secondary outcomes). RESULTS: All subjects, not depending from which group they come from, significantly improved in both the performance of the 9-HPT and in the parameters of the kinesiological measurements (movement error and smoothness). No statistically significant differences have been found between the two groups. CONCLUSIONS: These findings suggest that immersive VE and wearable haptic devices is a viable alternative to conventional therapy for improving upper extremity function in children with neuromotor impairments. Trial registration ClinicalTrials, NCT03353623. Registered 27 November 2017-Retrospectively registered, https://clinicaltrials.gov/ct2/show/NCT03353623.


Subject(s)
Cerebral Palsy/rehabilitation , Gait Apraxia/rehabilitation , Virtual Reality , Wearable Electronic Devices , Cerebral Palsy/physiopathology , Child , Cross-Over Studies , Female , Gait Apraxia/physiopathology , Humans , Male , Pilot Projects , Single-Blind Method , Upper Extremity/physiopathology
5.
Rev Neurol ; 70(5): 161-170, 2020 Mar 01.
Article in Spanish, English | MEDLINE | ID: mdl-32100276

ABSTRACT

INTRODUCTION: Freezing of gait (FOG) is one of the most severe symptoms associated with Parkinson's disease (PD). Physiotherapy treatment could be an effective strategy for treating FOG, but no systematic review has been carried out in this regard. AIM: To identify the characteristics, methodological quality, and main outcomes of the studies that have analyzed the effects of physiotherapy interventions in FOG up to date, by performing a systematic review and a meta-analysis. PATIENTS AND METHODS: Four electronic databases were searched in order to find randomized controlled trials that provided information regarding the effects of any kind of physiotherapy treatment on FOG. The methodological quality of the included investigations was assessed by means of the PEDro scale. RESULTS: Twelve studies were identified for inclusion into the qualitative analysis, with four randomized controlled trials included in the final meta-analysis. The quality of the trials was generally good. Those physiotherapy modalities including cues were more effective for treating FOG than traditional physiotherapy approaches. The meta-analysis indicated that physiotherapy interventions had a significantly greater impact on FOG than control comparisons. CONCLUSIONS: Physiotherapy treatment, especially those modalities including visual and auditory cueing, should be prescribed to PD patients with FOG. Future studies including PD patients with cognitive impairment and FOG objective measurement tools are need to complete the existing scientific evidence.


TITLE: Fisioterapia para la congelación de la marcha en la enfermedad de Parkinson: revisión sistemática y metaanálisis.Introducción. La congelación de la marcha (CDM) es uno de los síntomas más graves asociados con la enfermedad de Parkinson (EP). El tratamiento fisioterapéutico podría ser una estrategia efectiva para su tratamiento, pero no se ha realizado ninguna revisión sistemática al respecto. Objetivo. Identificar las características, la calidad metodológica y los principales resultados de los estudios que han analizado los efectos de las intervenciones fisioterapéuticas en CDM hasta la fecha, mediante la realización de una revisión sistemática y un metaanálisis. Pacientes y métodos. Se realizaron búsquedas en cuatro bases de datos electrónicas para encontrar ensayos controlados aleatorizados que proporcionaran información con respecto a los efectos de cualquier tipo de tratamiento fisioterapéutico sobre la CDM. La calidad metodológica de las investigaciones se evaluó mediante la escala PEDro. Resultados. Se identificaron 12 estudios para su inclusión en el análisis cualitativo y cuatro ensayos controlados aleatorizados se incluyeron en el metaanálisis final. La calidad de los ensayos fue generalmente buena. Las modalidades de fisioterapia que incluían señales fueron más efectivas para tratar la CDM que los enfoques de fisioterapia tradicionales. El meta­análisis indicó que las intervenciones fisioterapéuticas tuvieron un impacto significativamente mayor sobre la CDM que las comparaciones de control. Conclusiones. El tratamiento fisioterapéutico, especialmente las modalidades que incluyen señales visuales y auditivas, debe prescribirse a los pacientes con EP con CDM. Se necesitan estudios futuros que incluyan pacientes con EP con deterioro cognitivo y herramientas de medición objetiva de la CDM para completar la evidencia científica existente.


Subject(s)
Gait Apraxia/therapy , Parkinson Disease/complications , Physical Therapy Modalities , Data Accuracy , Gait Apraxia/etiology , Humans , Randomized Controlled Trials as Topic , Treatment Outcome
6.
J Am Geriatr Soc ; 68(4): 803-808, 2020 04.
Article in English | MEDLINE | ID: mdl-31880326

ABSTRACT

OBJECTIVES: To examine whether five major personality traits are related to the motoric cognitive risk (MCR) syndrome, a pre-dementia syndrome characterized by cognitive complaints and slow gait speed. DESIGN: Cross-sectional. SETTING: Health and Retirement Study (HRS) and the National Health and Aging Trends Survey (NHATS). PARTICIPANTS: Dementia-free older adults aged 65 to 107 years (N > 8000). MEASUREMENTS: In both samples, participants provided data on personality, cognitive complaints, and measures of gait speed, as well as on demographic factors, physical activity, depressive symptoms, and body mass index (BMI). RESULTS: Across the two samples and a meta-analysis, higher neuroticism was related to higher risk of MCR (combined odds ratio [OR] = 1.32; 95% confidence interval [CI] = 1.21-1.45; P < .001), whereas higher extraversion (combined OR = .71; 95% CI = .65-.79; P < .001) and conscientiousness (combined OR = .70; 95% CI = .62-.78; P < .001) were associated with a lower likelihood of MCR. Higher openness was also related to a lower risk of MCR in the HRS and the meta-analysis (combined OR = .77; 95% CI = .70-.85; P < .001), whereas agreeableness was protective only in the HRS (OR = .83; 95% CI = .74-.92; P < .001). Additional analyses indicated that physical activity, depressive symptoms, and BMI partially accounted for these associations. CONCLUSION: This study adds to existing research on the factors related to the risk of MCR by showing an association with personality traits. Personality assessment may help to identify individuals who may be targeted by interventions focused on reducing the risk of MCR and ultimately of dementia. J Am Geriatr Soc 68:803-808, 2020.


Subject(s)
Cognitive Dysfunction/diagnosis , Gait Apraxia/diagnosis , Personality , Aged , Aged, 80 and over , Cognitive Dysfunction/etiology , Cross-Sectional Studies , Female , Gait Apraxia/etiology , Health Surveys , Humans , Longitudinal Studies , Male , Personality Tests , Risk Factors , Syndrome
8.
Arch. argent. pediatr ; 117(5): 493-496, oct. 2019. graf, tab
Article in Spanish | LILACS, BINACIS | ID: biblio-1054969

ABSTRACT

La miositis viral aguda es una complicación posterior a una infección viral causada, principalmente, por virus influenza A y B. Se caracteriza por ser un proceso inflamatorio transitorio, súbito, autolimitado y benigno. Generalmente, afecta a niños preescolares y escolares, que presentan dolor bilateral y sensibilidad en los grupos musculares de los miembros inferiores sin alteración en el examen neurológico. Puede generar alteración de la marcha o de la bipedestación. Su principal complicación es la rabdomiólisis, por lo que se debe hacer un seguimiento clínico y de los valores de la creatinfosfoquinasa. Se presenta el caso de un niño en edad escolar con diagnóstico de miositis viral aguda. Debido a que es poco frecuente y su incidencia en Latinoamérica es desconocida, se considera importante el reporte del caso y la revisión del tema, ya que su curso es benigno, de fácil manejo, y su conocimiento evita estudios y hospitalizaciones innecesarias.


Acute viral myositis is a complication after a viral infection mainly caused by Influenza A and B viruses. It is characterized as a transitory, sudden, self-limiting and benign inflammatory process. It usually affects preschool and school children presenting bilateral pain and sensitivity in the muscle groups of the lower limbs without alteration in the neurological examination. It can affect the gait or standing. The main complication is rhabdomyolysis, which is why clinical followup and values of creatine phosphokinase must be done. We present the case of a school-age child diagnosed with acute viral myositis. Because it is not a frequent entity and its incidence in Latin America is unknown, we consider important to report the case and review the topic, as its clinical course is benign, easily treated, and its knowledge can avoid unnecessary studies and hospitalizations.


Subject(s)
Humans , Male , Child , Myositis/diagnosis , Rhabdomyolysis , Virus Diseases , Gait Apraxia , Myositis/complications , Myositis/therapy
9.
Alzheimers Dement ; 15(9): 1218-1228, 2019 09.
Article in English | MEDLINE | ID: mdl-31399334

ABSTRACT

INTRODUCTION: The corticobasal syndrome (CBS) is associated with several neuropathologic disorders, including corticobasal degeneration and Alzheimer's disease (AD). METHOD: In this report, we studied 43 AD patients with CBS (AD-CBS) and compared them with 42 AD patients with typical amnestic syndrome (AD-AS), as well as 15 cases of corticobasal degeneration and CBS pathology. RESULTS: Unlike AD-AS, AD-CBS had prominent motor problems, including limb apraxia (90%), myoclonus (81%), and gait disorders (70%). Alien limb phenomenon was reported in 26% and cortical sensory loss in 14%. Language problems were also more frequent in AD-CBS, and memory impairment was less frequent. AD-CBS had more tau pathology in perirolandic cortices but less in superior temporal cortex than AD-AS. In addition, AD-CBS had greater neuronal loss in the substantia nigra. DISCUSSION: AD-CBS is a clinicopathological subtype of AD with an atypical distribution of Alzheimer-type tau pathology. Greater neuronal loss in the substantia nigra may contribute to Parkinsonism which is not a feature of typical AD.


Subject(s)
Alzheimer Disease , Cerebral Cortex/pathology , Neurodegenerative Diseases , Aged , Alzheimer Disease/classification , Alzheimer Disease/pathology , Female , Gait Apraxia/etiology , Humans , Male , Middle Aged , Neurodegenerative Diseases/diagnostic imaging , Neurodegenerative Diseases/pathology , Parkinsonian Disorders , Temporal Lobe/pathology , tau Proteins
10.
Mayo Clin Proc ; 94(6): 1065-1072, 2019 06.
Article in English | MEDLINE | ID: mdl-31171116

ABSTRACT

Wernicke encephalopathy (WE) was first described by Carl Wernicke in 1881. WE is caused by thiamine deficiency. Alcoholism is the most common etiologic factor associated with WE in the United States, but it can occur in any patient with a nutritional deficiency state such as hyperemesis gravidarum, intestinal obstruction, and malignancy. WE is a clinical diagnosis. The common findings include mental status changes, ocular dysfunction, and a gait apraxia, present in only 10% of cases. Only a few cases of WE are diagnosed before death. Approximately 80% of patients with untreated WE have development of Korsakoff syndrome, which is characterized by memory impairment associated with confabulation. The initial clinical diagnosis of WE is critical, keeping in mind that the classic triad of symptoms is often absent. Recognition of nutritional deficiency and any portion of the classic triad should prompt treatment. Additionally, hypothermia, hypotension, and coma should raise clinical suspicion for the disease. Primary treatment includes timely administration of thiamine, for which the route and dosage remain controversial. Clinical judgment should be exercised in diagnosis and treatment (dosage, frequency, route of administration and duration) in all cases of WE. Overdiagnosis and overtreatment may be preferred to prevent prolonged or persistent neurocognitive impairments given the excellent safety profile of thiamine. Further prospective research is warranted to better understand the disease biology, risk factors, and treatment recommendations.


Subject(s)
Thiamine/administration & dosage , Wernicke Encephalopathy/diagnosis , Wernicke Encephalopathy/drug therapy , Gait Apraxia , Humans , Hypotension , Memory Disorders , Thiamine/pharmacology , Wernicke Encephalopathy/physiopathology
11.
Article in English | WPRIM (Western Pacific) | ID: wpr-765834

ABSTRACT

No abstract available.


Subject(s)
Gait Apraxia , Gait
12.
Arq Neuropsiquiatr ; 76(10): 692-696, 2018 10.
Article in English | MEDLINE | ID: mdl-30427509

ABSTRACT

OBJECTIVE: The current study translated to Portuguese and validated the normal pressure hydrocephalus (NPH) scale originally developed in English as the Grading Scale for Idiopathic Normal Pressure Hydrocephalus. METHODS: Following Guillemin's validation protocol, the last version of the Portuguese NPH scale was applied to 121 consecutive patients with a diagnosis of normal pressure hydrocephalus (73 men and 48 women) from the Group of Cerebral Hydrodynamics from July 2010 to March 2012. RESULTS: The mean age was 71.09 years old, ranging from 35 to 92 years. The rate of agreement and reproducibility was high, as confirmed by Cohen's Kappa coefficient, with excellent intraobserver correlation for the NPH scale items individually evaluated: gait (0.80), dementia (0.90) and incontinence (0.87). CONCLUSIONS: The Portuguese version of the Grading Scale for Idiopathic Normal Pressure Hydrocephalus was successfully translated and validated for use in Brazilian patients.


Subject(s)
Hydrocephalus, Normal Pressure/diagnosis , Surveys and Questionnaires/standards , Adult , Aged , Aged, 80 and over , Brazil , Cross-Cultural Comparison , Cross-Sectional Studies , Dementia/diagnosis , Female , Gait Apraxia/diagnosis , Humans , Language , Male , Middle Aged , Reproducibility of Results , Translations , Urinary Incontinence/diagnosis
13.
Arq. neuropsiquiatr ; 76(10): 692-696, Oct. 2018. tab, graf
Article in English | LILACS | ID: biblio-973927

ABSTRACT

ABSTRACT Objective: The current study translated to Portuguese and validated the normal pressure hydrocephalus (NPH) scale originally developed in English as the Grading Scale for Idiopathic Normal Pressure Hydrocephalus. Methods: Following Guillemin's validation protocol, the last version of the Portuguese NPH scale was applied to 121 consecutive patients with a diagnosis of normal pressure hydrocephalus (73 men and 48 women) from the Group of Cerebral Hydrodynamics from July 2010 to March 2012. Results: The mean age was 71.09 years old, ranging from 35 to 92 years. The rate of agreement and reproducibility was high, as confirmed by Cohen's Kappa coefficient, with excellent intraobserver correlation for the NPH scale items individually evaluated: gait (0.80), dementia (0.90) and incontinence (0.87). Conclusions: The Portuguese version of the Grading Scale for Idiopathic Normal Pressure Hydrocephalus was successfully translated and validated for use in Brazilian patients.


RESUMO Objetivos: o presente estudo valida para a língua portuguesa a escala de hidrocefalia de pressão normal (HPN) desenvolvida em língua inglesa como "Escala de classificação para hidrocefalia de pressão normal idiopática". Métodos: Usando o método de Guillemin, uma versão traduzida da escala foi aplicada em 121 pacientes consecutivos com diagnóstico de hidrocefalia de pressão normal (73 homens e 48 mulheres) no Grupo de Hidrodinâmica Cerebral do Hospital das Clínicas da FMUSP de julho de 2010 a março de 2012. Resultados: a média de idade foi de 71,09 anos, variando de 35 a 92 anos. A taxa de concordância e reprodutibilidade foi alta, conforme confirmado pelo coeficiente Kappa, com excelente correlação intraobservador para itens de escala HPN que avaliou a marcha (0,80), demência (0,90) e incontinência (0,87). Conclusões: a versão em português da escala de graduação para pacientes com HPN foi traduzida e validada com sucesso para uso em pacientes brasileiros de ambos os sexos.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Aged, 80 and over , Surveys and Questionnaires/standards , Hydrocephalus, Normal Pressure/diagnosis , Translations , Urinary Incontinence/diagnosis , Brazil , Cross-Cultural Comparison , Cross-Sectional Studies , Reproducibility of Results , Gait Apraxia/diagnosis , Dementia/diagnosis , Language
14.
Arq Neuropsiquiatr ; 76(5): 324-331, 2018 May.
Article in English | MEDLINE | ID: mdl-29898079

ABSTRACT

INTRODUCTION: Normal pressure hydrocephalus (NPH), described by Hakim and Adams in 1965, is characterized by gait apraxia, urinary incontinence, and dementia. It is associated with normal cerebrospinal fluid (CSF) pressure and ventricular dilation that cannot be attributed to cerebral atrophy. OBJECTIVES: To evaluate gait characteristics in patients with idiopathic NPH and investigate the effect of the CSF tap test (CSF-TT) on gait. METHODS: Twenty-five patients diagnosed with probable idiopathic NPH were submitted to the CSF-TT. The procedure aimed to achieve changes in gait parameters. RESULTS: Fifteen gait parameters were assessed before and after the CSF-TT. Five showed a statistically significant improvement (p < 0.05): walking speed (p < 0.001), cadence (p < 0.001), step length (p < 0.001), en bloc turning (p = 0.001), and step height (p = 0.004). CONCLUSION: This study demonstrated that gait speed was the most responsive parameter to the CSF-TT, followed by cadence, step length, en bloc turning, and step height.


Subject(s)
Gait Apraxia/diagnosis , Hydrocephalus, Normal Pressure/complications , Aged , Aged, 80 and over , Cerebrospinal Fluid Pressure , Female , Gait Apraxia/cerebrospinal fluid , Gait Apraxia/etiology , Gait Apraxia/physiopathology , Geriatric Assessment , Humans , Hydrocephalus, Normal Pressure/cerebrospinal fluid , Hydrocephalus, Normal Pressure/physiopathology , Male , Prospective Studies
15.
Arq. neuropsiquiatr ; 76(5): 324-331, May 2018. tab, graf
Article in English | LILACS | ID: biblio-950547

ABSTRACT

ABSTRACT Normal pressure hydrocephalus (NPH), described by Hakim and Adams in 1965, is characterized by gait apraxia, urinary incontinence, and dementia. It is associated with normal cerebrospinal fluid (CSF) pressure and ventricular dilation that cannot be attributed to cerebral atrophy. Objectives: To evaluate gait characteristics in patients with idiopathic NPH and investigate the effect of the CSF tap test (CSF-TT) on gait. Methods: Twenty-five patients diagnosed with probable idiopathic NPH were submitted to the CSF-TT. The procedure aimed to achieve changes in gait parameters. Results: Fifteen gait parameters were assessed before and after the CSF-TT. Five showed a statistically significant improvement (p < 0.05): walking speed (p < 0.001), cadence (p < 0.001), step length (p < 0.001), en bloc turning (p = 0.001), and step height (p = 0.004). Conclusion: This study demonstrated that gait speed was the most responsive parameter to the CSF-TT, followed by cadence, step length, en bloc turning, and step height.


RESUMO A hidrocefalia de pressão normal (HPN), descrita por Hakim-Adams em 1965, caracteriza-se por apraxia de marcha, incontinência urinária e demência e está associada com pressão normal do líquido cefalorraquidiano e dilatação ventricular não atribuída a atrofia cerebral. Objetivos: Avaliar as características da marcha em pacientes com HPN idiopática e o efeito do "tap-test" (TT) na marcha. Métodos: Vinte e cinco pacientes com o diagnóstico HPN idiopática provável, foram avaliados com o TT. O procedimento tem como objetivo causar mudanças nas características da marcha. Resultados: Quinze parâmetros da marcha foram avaliados com o TT. Cinco mostraram melhora estatisticamente significativa (p < 0,05): velocidade da marcha (p < 0,001), cadência (p < 0,001), comprimento do passo (p < 0,001), giro em "bloco" (p = 0,001) e altura do passo (p = 0,004). Conclusão: Este estudo demonstrou que a velocidade da marcha foi o parâmetro que mais respondeu ao efeito do TT, seguido da cadência, comprimento do passo, giro em "bloco" e altura do passo.


Subject(s)
Humans , Male , Female , Aged , Aged, 80 and over , Gait Apraxia/diagnosis , Hydrocephalus, Normal Pressure/complications , Cerebrospinal Fluid Pressure , Geriatric Assessment , Prospective Studies , Gait Apraxia/etiology , Gait Apraxia/physiopathology , Gait Apraxia/cerebrospinal fluid , Hydrocephalus, Normal Pressure/cerebrospinal fluid
16.
Parkinsonism Relat Disord ; 50: 19-22, 2018 05.
Article in English | MEDLINE | ID: mdl-29477458

ABSTRACT

"Apraxia of gait" is not a useful concept and freezing of gait should also not be considered an apraxia. The concept of apraxia may, however, be applied to distortions of postural transitions that can accompany fronto-parietal lesions.


Subject(s)
Apraxias/physiopathology , Gait Apraxia/physiopathology , Gait Disorders, Neurologic/physiopathology , Postural Balance/physiology , Terminology as Topic , Humans
17.
Article in English | WPRIM (Western Pacific) | ID: wpr-765816

ABSTRACT

We present a case of beta-propeller protein-associated neurodegeneration, a form of neurodegeneration with brain iron accumulation. The patient harbored a novel mutation in the WDR45 gene. A detailed video and description of her clinical condition are provided. Her movement disorder phenomenology was characterized primarily by limb stereotypies and gait dyspraxia. The patient's disability was advanced by the time iron-chelating therapy with deferiprone was initiated, and no clinical response in terms of cognitive function, behavior, speech, or movements were observed after one year of treatment.


Subject(s)
Humans , Brain , Chelation Therapy , Cognition , Extremities , Gait Apraxia , Iron , Movement Disorders
19.
Medicine (Baltimore) ; 96(45): e8592, 2017 Nov.
Article in English | MEDLINE | ID: mdl-29137084

ABSTRACT

RATIONALE: Extremely sharp angular spinal deformity of healed tuberculosis can be corrected by vertebral column resection (VCR). However, the VCR techniques have many limitations including spinal column instability, greater blood loss, and greater risk of neurologic deficit. PATIENT CONCERNS: We described a new spinal osteotomy technique to collect sharp angular spinal deformity in Pott disease. A 52-year-old woman presented with back pain and gait imbalance. DIAGNOSIS: The kyphosis of healed tuberculosis was diagnosed based on history and imaging examinations. INTERVENTION: A new posterior VCR was designed to treat this disease. OUTCOMES: The neurological function improved from Japanese Orthopedic Association scale 3 to 7. The back pain and neurological function were significantly improved. The Oswestry Disability Index decreased from 92 to 34. There was also a significant decrease in back pain visual analog scale from 9 to 2. LESSONS: For cases with extremely severe Pott kyphotic deformity, the technology of modified VCR offers excellent clinical and radiographic results.


Subject(s)
Kyphosis/surgery , Laminectomy/methods , Osteotomy/methods , Spine/surgery , Tuberculosis, Spinal/complications , Back Pain/microbiology , Back Pain/surgery , Female , Gait Apraxia/microbiology , Gait Apraxia/surgery , Humans , Kyphosis/microbiology , Middle Aged , Spine/microbiology , Treatment Outcome
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