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BACKGROUND: ATXN2 is the causative gene of spinocerebellar ataxia type 2 (SCA2) and has been implicated in glaucoma pathogenesis. Therefore, studying ocular changes in SCA2 could uncover clinically relevant changes. OBJECTIVE: The aim was to investigate optic disc and retinal architecture in SCA2. METHODS: We evaluated 14 patients with SCA2 and 26 controls who underwent intraocular pressure measurement, fundoscopy, and macular and peripapillary spectral domain optical coherence tomography (SD-OCT). We compared SD-OCT measurements in SCA2 and controls, and the frequency of glaucomatous changes among SCA2, controls, and 76 patients with other SCAs (types 1, 3, 6, and 7). RESULTS: The macula, peripapillary retinal nerve fiber and inner plexiform layers were thinner in SCA2 than in controls. Increased cup-to-disc ratio was more frequent in SCA2 than in controls and other SCAs. CONCLUSIONS: Ocular changes are part of SCA2 phenotype. Future studies should further investigate retinal and optic nerve architecture in this disorder.
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Mácula Lútea , Disco Óptico , Humanos , Disco Óptico/patología , Células Ganglionares de la Retina/patología , Retina/diagnóstico por imagen , Retina/patología , Mácula Lútea/patología , Tomografía de Coherencia Óptica/métodosRESUMEN
A 45-year-old woman presented with sudden complete vision loss in her left eye and retroorbital pain worsened by eye movements. A previous milder episode of vision loss had occurred in the same eye 1 year before, with complete recovery after high-dose intravenous methylprednisolone. She had no light perception in the left eye with a swollen optic disc, but with a normal right optic disc. There were no systemic manifestations or infections. MR scan of the brain showed extensive enlargement and enhancement of the left optic nerve and optic chiasm. After excluding infections and autoimmune markers, a left optic nerve biopsy confirmed non-caseating granulomas, leading to a diagnosis of neurosarcoidosis.
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Enfermedades del Sistema Nervioso Central , Neuritis , Enfermedades del Nervio Óptico , Sarcoidosis , Femenino , Humanos , Persona de Mediana Edad , Enfermedades del Nervio Óptico/diagnóstico por imagen , Enfermedades del Nervio Óptico/etiología , Nervio Óptico/patología , Sarcoidosis/complicaciones , Sarcoidosis/diagnóstico por imagen , Neuritis/patología , CegueraRESUMEN
A 57-year-old man was diagnosed with acute myocardial infarction and Stanford type A aortic dissection that had spread to the common iliac arteries. He underwent a Bentall procedure for vascular repair. Immediately after surgery, he developed numbness and severe weakness in his left leg. On examination, he had hypotonia, absent deep tendon reflexes, weakness in the left leg (Medical Research Council (MRC) scale for muscle strength - 0/5 distal, 3/5 proximal) and reduced sensation in the left leg. Electromyography confirmed subacute involvement of the left lumbar and lumbosacral plexus. MR scan of the lumbar plexus showed diffuse muscle oedema involving the left gluteus maximus. We diagnosed ischaemic lumbosacral plexopathy secondary to extensive aorta dissection and internal iliac artery occlusion. We discuss the clinical features of ischaemic plexopathy and the diagnostic approach and review the vascular anatomy of the lumbosacral plexus.
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Disección Aórtica , Isquemia , Masculino , Humanos , Persona de Mediana Edad , Isquemia/diagnóstico por imagen , Isquemia/etiología , Isquemia/cirugía , Arteria Ilíaca/cirugía , Músculo Esquelético , Electromiografía , Disección Aórtica/complicaciones , Disección Aórtica/diagnóstico por imagen , Disección Aórtica/cirugíaRESUMEN
BACKGROUND: Neurodegeneration affects the brain and peripheral nervous system in spinocerebellar ataxia type 3 (SCA3). As the retina is also involved, studying the retinal architecture in a cohort of patients could reveal clinically relevant biomarkers. OBJECTIVE: The aim is to investigate retinal architecture in SCA3 to identify potential biomarkers. METHODS: We evaluated 38 patients with SCA3 and 25 healthy age-matched controls, who underwent visual acuity assessment, intraocular pressure measurement, and fundoscopy and macular and peripapillary spectral domain optical coherence tomography (SD-OCT). We measured the peripapillary retinal nerve fiber layer (pRNFL) thickness in each quadrant of the temporal-superior-nasal-inferior-temporal chart and the macular layer thicknesses in each sector of the inner circle of the Early Treatment Diabetic Retinopathy Study (IC-ETDRS) grid. Linear regression analysis was employed to test the associations between retinal parameters and age, disease duration, CAG repeats, and SARA (Scale of the Assessment and Rating of Ataxia) and ICARS (International Cooperative Ataxia Rating Scale) scores in SCA3. RESULTS: In all sectors, except for the temporal quadrant, pRNFL was significantly thinner in SCA3 patients than in controls. Average total macular, ganglion cell layer (GCL), and inner plexiform layer (IPL) thicknesses were significantly decreased in SCA3 patients in comparison to controls. The average total macular thickness and the average thicknesses of RNFL, GCL, and IPL negatively correlated with ICARS scores, whereas average GCL and IPL thicknesses negatively correlated with SARA scores. CONCLUSIONS: The retinal ganglion cells, their dendrites, and axons are selectively affected in SCA3 patients. The RNFL, GCL, and IPL thicknesses in SD-OCT correlate with the clinical phenotype and represent potential biomarkers for future clinical trials and natural history studies. © 2021 International Parkinson and Movement Disorder Society.
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Enfermedad de Machado-Joseph , Biomarcadores , Humanos , Enfermedad de Machado-Joseph/diagnóstico por imagen , Fibras Nerviosas , Retina/diagnóstico por imagen , Índice de Severidad de la Enfermedad , Tomografía de Coherencia Óptica/métodosRESUMEN
BACKGROUND: Ataxia with oculomotor apraxia (AOA) is characterized by early-onset cerebellar ataxia associated with oculomotor apraxia. AOA1, AOA2, AOA3, and AOA4 subtypes may present pathogenic variants in APTX, SETX, PIK3R5, and PNKP genes, respectively. Mutations in XRCC1 have been found to cause autosomal recessive spinocerebellar ataxia-26 (SCAR26) now considered AOA5. OBJECTIVES: To examine a cohort of Brazilians with autosomal recessive cerebellar ataxia plus oculomotor apraxia and determine the frequencies of AOA subtypes through genetic investigation. METHODS: We evaluated clinical, biomarkers, electrophysiological, and radiological findings of 52 patients with AOA phenotype and performed a genetic panel including APTX, SETX, PIK3R5, PNKP, and XRCC1. RESULTS: We found pathogenic variants in SETX (15 patients), PNKP (12), and APTX (5). No mutations in PIK3R5 or XRCC1 were identified. CONCLUSIONS: AOA2 and AOA4 were the most common forms of AOA in Brazil. Mutations in PIK3R5 and XRCC1 were not part of this genetic spectrum. © 2022 International Parkinson and Movement Disorder Society.
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Apraxias , Ataxia Cerebelosa , Apraxias/congénito , Apraxias/genética , Ataxia/genética , Brasil , Ataxia Cerebelosa/complicaciones , Ataxia Cerebelosa/genética , Síndrome de Cogan , ADN Helicasas/genética , Enzimas Reparadoras del ADN/genética , Humanos , Enzimas Multifuncionales/genética , Mutación/genética , Fosfotransferasas (Aceptor de Grupo Alcohol)/genética , ARN Helicasas/genética , Proteína 1 de Reparación por Escisión del Grupo de Complementación Cruzada de las Lesiones por Rayos X/genéticaRESUMEN
BACKGROUND: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) causes unique retinal abnormalities, which have not been systematically investigated. OBJECTIVE: To deeply phenotype the retina in ARSACS in order to better understand its pathogenesis and identify potential biomarkers. METHODS: We evaluated 29 patients with ARSACS, 66 with spinocerebellar ataxia (SCA), 38 with autosomal recessive cerebellar ataxia (ATX), 22 with hereditary spastic paraplegia (SPG), 21 cases of papilledema, and 20 healthy controls (total n = 196 subjects). Participants underwent visual acuity assessment, intraocular pressure measurement, fundoscopy, and macular and peripapillary optical coherence tomography (OCT). Macular layers thicknesses in ARSACS were compared with those of age-matched healthy controls. Ophthalmologists analyzed the scans for abnormal signs in the different patient groups. Linear regression analysis was conducted to look for associations between retinal changes and age, age at onset, disease duration, and Scale for the Assessment and Rating of Ataxia (SARA) scores in ARSACS. RESULTS: Only patients with ARSACS exhibited peripapillary retinal striations (82%) on fundoscopy, and their OCT scans revealed foveal hypoplasia (100%), sawtooth appearance (89%), papillomacular fold (86%), and macular microcysts (18%). Average peripapillary retinal nerve fiber layer (pRNFL) was thicker in ARSACS than in SCA, ATX, SPG, and controls; a cut-off of 121 µm was 100% accurate in diagnosing ARSACS. All macular layers were thicker in ARSACS when compared to healthy controls. RNFL thickness in the inferior sector of the macula positively correlated with SARA scores. CONCLUSIONS: Retinal abnormalities are highly specific for ARSACS, and suggest retinal hyperplasia due to abnormal retinal development. OCT may provide potential biomarkers for future clinical trials. © 2021 International Parkinson and Movement Disorder Society.
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Espasticidad Muscular , Ataxias Espinocerebelosas , Biomarcadores , Humanos , Espasticidad Muscular/diagnóstico por imagen , Retina/diagnóstico por imagen , Ataxias Espinocerebelosas/congénito , Ataxias Espinocerebelosas/diagnóstico por imagen , Ataxias Espinocerebelosas/genéticaRESUMEN
Herein, we report a patient that presented with late-onset progressive steppage gait, neuropathy and pes cavus, suggesting Charcot-Marie-Tooth (CMT) disease. Subsequent genetic investigation confirmed Friedreich's ataxia (FRDA). We demonstrate that late-onset Friedreich's ataxia (LOFA) may be a CMT mimicker. This case reinforces that other genetic conditions may clinically resemble CMT. The clinical similarities between CMT and FRDA include a symmetrical neuropathy (axonal in FRDA), steppage gait, and eventually scoliosis. We suggest that late-onset forms of hereditary neuropathies should be carefully evaluated, since LOFA may be a CMT mimicker.
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Enfermedad de Charcot-Marie-Tooth/diagnóstico , Ataxia de Friedreich/diagnóstico , Adulto , Edad de Inicio , Diagnóstico Diferencial , Ataxia de Friedreich/genética , Ataxia de Friedreich/patología , Ataxia de Friedreich/fisiopatología , Humanos , MasculinoRESUMEN
BACKGROUND: Teaching physiology, a complex and constantly evolving subject, is not a simple task. A considerable body of knowledge about cognitive processes and teaching and learning methods has accumulated over the years, helping teachers to determine the most efficient way to teach, and highlighting student's active participation as a means to improve learning outcomes. In this context, this paper describes and qualitatively analyzes an experience of a student-centered teaching-learning methodology based on the construction of physiological-physical models, focusing on their possible application in the practice of teaching physiology. METHODS: After having Physiology classes and revising the literature, students, divided in small groups, built physiological-physical models predominantly using low-cost materials, for studying different topics in Physiology. Groups were followed by monitors and guided by teachers during the whole process, finally presenting the results in a Symposium on Integrative Physiology. RESULTS: Along the proposed activities, students were capable of efficiently creating physiological-physical models (118 in total) highly representative of different physiological processes. The implementation of the proposal indicated that students successfully achieved active learning and meaningful learning in Physiology while addressing multiple learning styles. CONCLUSION: The proposed method has proved to be an attractive, accessible and relatively simple approach to facilitate the physiology teaching-learning process, while facing difficulties imposed by recent requirements, especially those relating to the use of experimental animals and professional training guidelines. Finally, students' active participation in the production of knowledge may result in a holistic education, and possibly, better professional practices.
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Fisiología/educación , Educación Médica/métodos , Humanos , Modelos Anatómicos , Estudiantes de Medicina , Enseñanza/métodosRESUMEN
BACKGROUND: Functional gait is a disorder of ambulation and balance internally inconsistent and incongruent with the phenotypic spectrum of neurological gait disorders. OBJECTIVES: This paper aims to clinically characterize patients with functional ataxia. METHODS: Patients with functional ataxia were analyzed out of 1350 patients in Ataxia Unit of the Federal University of São Paulo circa 2008 to 2022. RESULTS: Thirteen patients (1 %) presented with functional ataxia; all female, with a median age of 34.8 years. Six (46.2 %) had psychiatric comorbidities and 7 (53.8 %) endorsed a trigger. Diagnostic features included variable base and stride (100 %), "huffing and puffing" (30.7 %), knee-buckling (30.7 %), uneconomic posturing (38.5 %), tightrope walking (23 %), and trembling gait (15.4 %). Remarkably, no falls were reported in any case. 53.8 % recovered fully or partially, despite no treatment. CONCLUSIONS: Variability of base and stride are universal features of functional ataxia, yet falls are inconspicuous. Functional Ataxia is rare even in a specialized ataxia center.
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Ataxia , Marcha , Humanos , Femenino , Adulto , TemblorRESUMEN
Neurodegeneration with brain iron accumulation (NBIA) encompasses a clinically and genetically heterogeneous group of rare disorders. Here, we report clinical, neuroimaging and genetic studies in twenty three Brazilian NBIA patients. In thirteen subjects, deleterious variants were detected in known NBIA-causing genes (PANK2, PLA2G6, C9ORF12, WDR45 and FA2H), including previously unreported variants in PANK2 and PLA2G6. Two patients carried rare, likely pathogenic variants in genes not previously associated with NBIA: KMT2A c.11785A > C (p.Ile3929Leu), and TIMM8A c.127T > C (p.Cys43Arg), suggesting an expansion of their associated phenotypes to include NBIA. In eight patients the etiology remains unsolved, suggesting variants undetectable by the adopted methods, or the existence of additional NBIA-causing genes.
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Neuroimagen , Humanos , Brasil , Femenino , Masculino , Adulto , Adolescente , Adulto Joven , Niño , Preescolar , Imagen por Resonancia Magnética , Encéfalo/diagnóstico por imagen , Encéfalo/metabolismo , Encéfalo/patología , Distrofias Neuroaxonales/genética , Distrofias Neuroaxonales/diagnóstico por imagen , Fosfotransferasas (Aceptor de Grupo Alcohol)/genética , Hierro/metabolismo , Trastornos del Metabolismo del Hierro/genética , Trastornos del Metabolismo del Hierro/diagnóstico por imagen , Fosfolipasas A2 Grupo VIRESUMEN
BACKGROUND: Biallelic loss-of-function NDUFA12 variants have hitherto been linked to mitochondrial complex I deficiency presenting with heterogeneous clinical and radiological features in nine cases only. OBJECTIVES: To fully characterize, both phenotypically and genotypically, NDUFA12-related mitochondrial disease. METHODS: We collected data from cases identified by screening genetic databases of several laboratories worldwide and systematically reviewed the literature. RESULTS: Nine unreported NDUFA12 cases from six pedigrees were identified, with presentation ranging from movement disorder phenotypes (dystonia and/or spasticity) to isolated optic atrophy. MRI showed basal ganglia abnormalities (n = 6), optic atrophy (n = 2), or was unremarkable (n = 1). All carried homozygous truncating NDUFA12 variants, three of which are novel. CONCLUSIONS: Our case series expands phenotype-genotype correlations in NDUFA12-associated mitochondrial disease, providing evidence of intra- and inter-familial clinical heterogeneity for the same variant. It confirms NDUFA12 variants should be included in the diagnostic workup of Leigh/Leigh-like syndromes - particularly with dystonia - as well as isolated optic atrophy.
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BACKGROUND: Spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant spinocerebellar ataxia worldwide. Almost all patients with SCA3 exhibit nystagmus and/or saccades impairment. OBJECTIVE: To investigate the presence of nystagmus as an early neurological manifestation, before ataxia, in some patients with SCA3 in the first six months of the disease. METHODS: We evaluated a series of 155 patients with clinically and molecularly proven SCA3 between 2013 and 2020. Data regarding sex, age, age at onset, disease duration, CAG repeat expansion length, first symptom, presence of ataxia, scores on SARA and ICARS scales, and presence and characteristics of nystagmus were collected. RESULTS: We identified seven patients with symptomatic SCA3 who presented with isolated nystagmus. In these seven individuals the age at onset ranged from 24 to 57 years, and disease duration from four to six months. CONCLUSIONS: Our study showed that nystagmus may be the first neurological sign in SCA3. This clinical observation reinforces the idea that the neurodegenerative process in SCA3 patients may start in vestibular system connections or in flocculonodular lobe. This study adds relevant information about pre-symptomatic features in SCA3 that may work as basis for a better understanding of brain degeneration and for future therapeutic clinical trials.
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Ataxia Cerebelosa , Enfermedad de Machado-Joseph , Nistagmo Patológico , Ataxias Espinocerebelosas , Adulto , Edad de Inicio , Femenino , Humanos , Enfermedad de Machado-Joseph/genética , Masculino , Persona de Mediana Edad , Ataxias Espinocerebelosas/complicaciones , Ataxias Espinocerebelosas/genética , Adulto JovenRESUMEN
BACKGROUND AND OBJECTIVES: Medical consultation by a specialist physician consists of an evaluation to review diagnosis and management of patients with some neurological conditions referred from other specialty wards. This mode of care delivery has gained relevance in the field of neurology and adequate training on it is valuable, allowing neurologists to provide state-of-the-art management to patients with neurological manifestations. The present study aimed to characterize neurology consults and to discuss the roles of the neurologist within a hospital setting. METHODS: A prospective analysis of neurological consultations provided to inpatients of a university hospital in São Paulo, Brazil, was performed from September 2016 to September 2017. These patients were followed by the principal investigator, who was not involved in their care. RESULTS: We evaluated data from 117 female and 106 male inpatients with a mean age of 53.8 ± 2.4. The medical specialties that most frequently requested neurological consultations were Internal Medicine (17%), Cardiology (11.2%) and Pulmonology (9.4%). The main reasons for a neurology consultation request were seizures (15.6%); decreased level of consciousness (8.9%) and confusion (7.1%). The most frequent diagnosis in patients receiving a neurology consult were stroke (10.2%); hypoxic-ischemic encephalopathy (5.3%) and sepsis (2.2%). CONCLUSION: Our findings show the growing importance of the role of neurologists within hospital settings as many medical conditions present with neurological manifestations and the significance of the neurohospitalist model of care.
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IMPORTANCE: Hypertrophic pachymeningitis (HP) is a non-usual manifestation of rheumatologic, infectious, and neoplastic diseases. Etiological diagnosis is a challenge, but when made promptly it creates a window of opportunity for treatment, with the possibility of a total reversal of symptoms. OBSERVATIONS: HP is an inflammatory process of the dura mater that can occur as a manifestation of sarcoidosis, granulomatosis with polyangiitis, and IgG4-related disease. The HP case evaluation is extensive and includes central nervous system imaging, cerebrospinal fluid analysis, serology, rheumatologic tests, and systemic survey for other manifestations sites. After systemic investigation, meningeal biopsy might be necessary. Etiology guides HP treatment, and autoimmune disorders are treated with corticosteroids alone or associated with an immunosuppressor. CONCLUSION: HP is a manifestation of several diseases, and a precise etiological diagnosis is crucial because of the difference among treatments. An extensive investigation of patients with HP helps early diagnosis and correct treatment.
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Meningitis , Corticoesteroides , Duramadre/diagnóstico por imagen , Humanos , Hipertrofia , Imagen por Resonancia Magnética , Meningitis/diagnóstico , Meningitis/tratamiento farmacológicoRESUMEN
Ophthalmological abnormalities may occur in specific subtypes of hereditary spastic paraplegia (HSP) and in genetic diseases that present with spastic paraplegia mimicking HSP. These ophthalmological changes may precede the motor symptoms and include pigmentary retinal degeneration, ophthalmoplegia, optic atrophy, cataracts and nystagmus. Some ophthalmological abnormalities are more prevalent in specific forms of HSP. Considering that the diagnosis of HSP is usually difficult and complex, specific ophthalmological changes may guide the genetic testing. There are other genetic diseases such as autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), X-linked adrenoleukodystrophy and spastic paraplegia, optic atrophy and neuropathy (SPOAN) that may mimic HSP and also may present with specific ophthalmological changes. In this article, we review the main ophthalmological changes observed in patients with HSP and HSP-like disorders.
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Técnicas de Diagnóstico Oftalmológico , Oftalmopatías/diagnóstico por imagen , Oftalmopatías/genética , Paraplejía Espástica Hereditaria/diagnóstico por imagen , Paraplejía Espástica Hereditaria/genética , Oftalmopatías/epidemiología , Humanos , Espasticidad Muscular/diagnóstico por imagen , Espasticidad Muscular/epidemiología , Espasticidad Muscular/genética , Atrofia Óptica/diagnóstico por imagen , Atrofia Óptica/epidemiología , Atrofia Óptica/genética , Paraplejía/diagnóstico por imagen , Paraplejía/epidemiología , Paraplejía/genética , Paraplejía Espástica Hereditaria/epidemiología , Ataxias Espinocerebelosas/congénito , Ataxias Espinocerebelosas/diagnóstico por imagen , Ataxias Espinocerebelosas/epidemiología , Ataxias Espinocerebelosas/genéticaRESUMEN
INTRODUCTION: Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common spinocerebellar ataxia (SCA) worldwide. SCA3 presents with cerebellar ataxia in association with pyramidal signs, peripheral amyotrophy, nystagmus, ophthalmoparesis, fasciculations of the face and tongue, dystonia and parkinsonism. Oromandibular dystonia (OMD) with facial grimacing (FG) in SCA3 has seldom been reported in the literature and in series of SCA3 patients. METHODS: We evaluated 104 patients with SCA (59 patients with SCA3, 20 with SCA2, 20 with SCA7 and 5 with SCA6) and assessed dystonia frequency and types. RESULTS: Thirteen cases of SCA3, one of SCA2 and two of SCA7 had dystonia. OMD in the form of FG was present in seven SCA3 patients (11.9%). Patients with FG were significantly younger, had earlier disease onset and a significantly higher CAG repetition length when compared to the SCA3 sample. Parkinsonism, dysphagia and pyramidal signs were significantly more frequent in the FG group than the non-FG group of the SCA3 sample. CONCLUSION: Patients with SCA3 presenting with FG are younger, with earlier disease onset and higher CAG repetition length. They present with parkinsonism, dysphagia and pyramidal signs more frequently than SCA3 patients without FG.
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Trastornos Distónicos/complicaciones , Expresión Facial , Enfermedad de Machado-Joseph/complicaciones , Adulto , Trastornos Distónicos/genética , Femenino , Humanos , Enfermedad de Machado-Joseph/genética , Masculino , Persona de Mediana Edad , Repeticiones de Trinucleótidos , Adulto JovenRESUMEN
BACKGROUND: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an important form of inherited ataxia with a varied clinical spectrum. Detailed studies of phenotype and genotype are necessary to improve diagnosis and elucidate this disorder pathogenesis. OBJECTIVE AND METHODS: To investigate the clinical phenotype, retinal architecture, neuroimaging features and genetic profile of Brazilian patients with ARSACS, we performed neurological and ophthalmological evaluation in thirteen Brazilian patients with molecularly confirmed ARSACS, and examined their mutation profiles. Optical coherence tomography protocol (OCT) consisted in peripapillary retinal nerve fiber layer (RNFL) measurement and qualitative analysis of perifoveal scans. Neuroimaging protocol accessed the frequency of atrophy in cerebellum, corpus callosum and parietal lobe, brainstem signal abnormalities, and posterior fossa arachnoid cysts. We reviewed the literature to delineate the ARSACS phenotype in the largest series worldwide. RESULTS: All patients had ataxia and spasticity, and 11/13 had peripheral neuropathy. Macular microcysts were present in two patients. Peripapillary striations, dentate appearance of inner retina and papillomacular fold were found in eleven cases. All individuals exhibited thickening of RNFL in OCT. The most frequent radiological signs were cerebellar atrophy (13/13), biparietal atrophy (12/13), and linear pontine hypointensities (13/13). Genetic analysis revealed 14 different SACS variants, of which two are novel. CONCLUSION: Macular microcysts, inner retina dentate appearance and papillomacular fold are novel retinal imaging signs of ARSACS. Ophthalmological and neuroimaging changes are common findings in Brazilian patients. The core clinical features of ARSACS are ataxia, spasticity and peripheral neuropathy with onset predominantly in the first decade of life.
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Imagen por Resonancia Magnética/métodos , Espasticidad Muscular/diagnóstico por imagen , Espasticidad Muscular/genética , Neuronas Retinianas/patología , Análisis de Secuencia de ADN/métodos , Ataxias Espinocerebelosas/congénito , Tomografía de Coherencia Óptica/métodos , Adolescente , Adulto , Brasil/epidemiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Espasticidad Muscular/epidemiología , Neuroimagen/métodos , Ataxias Espinocerebelosas/diagnóstico por imagen , Ataxias Espinocerebelosas/epidemiología , Ataxias Espinocerebelosas/genéticaRESUMEN
OBJECTIVE: The clinical assessment of patients with ataxias requires reliable scales. We aimed to translate, adapt and validate the International Cooperative Ataxia Rating Scale (ICARS) into Brazilian Portuguese. METHODS: The steps of this study were forward translation, translation synthesis, backward translation, expert committee meeting, preliminary pilot testing and final assessment. Thirty patients were enrolled in the preliminary pilot testing and 61 patients were evaluated for construct validity, internal consistency, intra- and inter-rater reliability and external consistency. RESULTS: This study showed good validity of the construct and high internal consistency for the full scale, except for the oculomotor domain (Cronbach's alpha = 0.316, intraclass correlation coefficients intra- = 82.4% and inter- = 79.2%). A high correlation with the Scale for the Assessment and Rating of Ataxia was observed. We found good intra-rater agreement and relative inter-rater disagreement, except in the posture and gait domain. CONCLUSION: The present ICARS version is adapted for the Brazilian culture and can be used to assess our ataxic patients.