Abstract
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.
Functional ataxia in a specialized ataxia center Corazza, Luíza Alves; Reis Rosa, Augusto Bragança; Tonholo Silva, Thiago Yoshinaga ...
Parkinsonism & related disorders,
March 2024, 2024-Mar, 2024-03-00, 20240301, Letnik:
120
Journal Article
Recenzirano
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.
•Variability of base and stride were universal features in functional ataxia.•There were no falls, despite uneconomic posturing.•Other features included the “huffing and puffing” sign, knee-buckling, tightrope walking, and trembling gait.
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.
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.
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.
The present ICARS version is adapted for the Brazilian culture and can be used to assess our ataxic patients.
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.
•Pathological variants identified in 15/23 Brazilian NBIA patients.•A new PANK2 frameshift variant identified broadens the NBIA genetic spectrum.•Variants identified in the TIMM8A and KMT2A genes suggest expansion of their phenotypes to include NBIA.•The remaining 8 patients might carry variants undetectable by the adopted methods, or variants in additional, still unknown, NBIA-causing genes.
A clinical approach to hypertrophic pachymeningitis Abrantes, Fabiano Ferreira; Moraes, Marianna Pinheiro Moraes de; Rezende, Flávio Moura de ...
Arquivos de neuro-psiquiatria,
12/2020, Letnik:
78, Številka:
12
Journal Article
Recenzirano
Odprti dostop
ABSTRACT
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.
Downbeat nystagmus (DBN) is present in between 4 and 6% of patients with Chiari malformation type 1 (CM1). It is present in primary gaze and is characterized by a pathological phase which drifts the ...eyes in the upward direction followed by a downward quick-phase. Here, a four-case series of CM1 patients who developed progressive cerebellar ataxia and DBN is presented. Brain magnetic resonance imaging revealed the abnormal projected cerebellar tonsils. Evaluation of the posterior fossa through brain imaging looking for structural abnormalities such as CM1 is mandatory in cases of progressive ataxia combined with DBN, headache, and pyramidal signs.
Absence of part or all the iris is called aniridia. This is a distinct ophthalmological feature observed in a restrict group of genetic diseases. The triad of aniridia, congenital ataxia and ...intellectual disability characterize Gillespie syndrome, a recessive or dominant disease caused by ITPR1 gene mutations. Here, Filho et al present the case of a 23-year-old woman with Gillespie syndrome.
A 46-year-old woman was presented with headache and decreased level of consciousness. She had systemic lupus erythematosus (SLE) with positive antibodies. Cerebrospinal fluid (CSF) pressure was 350 ...mmH2O. Brain magnetic resonance imaging (MRI) revealed white matter changes and edema. MRI angiography and vessel wall imaging ruled out vasculitis. Malignant cerebral edema related to SLE was diagnosed. She had complete recovery after methylprednisolone and cyclophosphamide. Several neurological manifestations have been described in SLE, including intracranial hypertension syndrome, which is unusual. Malignant cerebral edema is a distinct syndrome rarely observed in SLE. Severe bloodbrain barrier disruption and vasculitis are the most likely pathophysiological mechanisms, and treatment includes immunotherapy.
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