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Special Considerations in Gaze
Published in Vivek Lal, A Clinical Approach to Neuro-Ophthalmic Disorders, 2023
Mohamed Elkasaby, Aasef G. Shaikh
Spinocerebellar ataxia type 3 (SCA3) or Machado–Joseph disease is the most common autosomal dominant SCAs caused by a CAG triplet expansion in the ATXN3 gene on the long arm of chromosome 14 [100–102]. SCA3 manifests with progressive gait, stance, limb and truncal ataxia; deficits mimicking motor neuron disease such as dysarthria, poor cough, tongue fasciculations are also seen [103–105]. In addition to parkinsonism and dystonia, SCA3 also presents with abnormal eye movements—these include optokinetic or gaze-evoked nystagmus, saccadic pursuit, slow and dysmetric saccades and dysfunction of the horizontal vestibulo-ocular reflex [106–111]. Limitation of vertical gaze, most commonly in the upward direction, is also seen [112]. Abduction ophthalmoplegia with sparing of adduction is a common finding in SCA3 [112]. These patients also have an overshoot of saccades, but some have low peak velocity without dynamic overshoot [113]. MRI features diffuse atrophy of the cerebellar vermis, superior cerebellar peduncle, pontine tegmentum and frontal lobes [114, 115]. The reticulotegmental nucleus of the pons and areas where OPNs are situated also have degeneration on histopathology [116, 117]. Slowing of saccades may be due to degeneration of mesencephalic neurons responsible for the burst generation [117, 118].
Epidemiology of the neurogenic bladder
Published in Jacques Corcos, David Ginsberg, Gilles Karsenty, Textbook of the Neurogenic Bladder, 2015
Patrick B. Leu, Ananias C. Diokno
Machado–Joseph disease is an autosomal dominant spinocerebellar ataxia, which frequently causes autonomic dysfunction. A study of 15 patients found 67% to have at least three symptoms of autonomic dysfunction. Voiding problems (predominantly nocturia and incontinence) and thermoregulatory disturbances were the most common symptoms.7
Designing augmentative and alternative communication systems with Aboriginal Australians: vocabulary representation, layout, and access
Published in Augmentative and Alternative Communication, 2022
Rebecca Amery, Julie Gungungbuy Wunungmurra, Gurimaŋu Bukuḻatjpi, Rachel Dikul Baker, Farrah Gumbula, Elah Yunupingu, Parimala Raghavendra, Ruth Barker, Deborah Theodoros, Howard Amery, Libby Massey, Anne Lowell
Machado–Joseph disease (MJD) is a rare, autosomal dominant neurodegenerative disease with very high prevalence in remote Australian Aboriginal communities (Carr et al., 2019). Furthermore, prevalence in this region is likely to increase due to population isolation, consanguinity, and polygyny (LaGrappe et al., 2017). The disease causes progressive damage to cells in the cerebellum, resulting in gait and limb ataxia, dysarthria, dysphagia, visual disturbances (including nystagmus, diplopia and vestibulo-ocular, smooth pursuit, and saccadic abnormalities) and other symptoms but cognition is not affected (Rüb et al., 2004; Saute & Jardim, 2015). Allied health professionals play a crucial role in supporting people with MJD, including consideration of augmentative and alternative communication (AAC) interventions, community participation, fatigue management, and alternative access requirements (de Silva, 2019).
Ibuprofen-based advanced therapeutics: breaking the inflammatory link in cancer, neurodegeneration, and diseases
Published in Drug Metabolism Reviews, 2021
Arun Upadhyay, Ayeman Amanullah, Vibhuti Joshi, Rohan Dhiman, Vijay Kumar Prajapati, Krishna Mohan Poluri, Amit Mishra
A significant amount of experimental evidence exists that establishes the anti-inflammatory, apoptosis-inducing, and tumor-suppressing properties of Ibuprofen. Additionally, a large number of reports show that this multifaceted drug may exert a very potent neuroprotective effect on multiple cellular or animal models of different neuronal diseases (see Figure 3). For example, in a recent study on an ATM-deficient mice model of ataxia-telangiectasia, pretreatment of ibuprofen delays the microglial activation and following neuroinflammatory changes caused due to systemic injection of lipopolysaccharide (Hui et al. 2018). Additionally, a recent proteomic analysis showed that energy metabolism and protein degradation machinery are the majorly affected pathways in the liver of ibuprofen-administered mice (Tiwari et al. 2020). In a different ataxia type 3, also called Machado-Joseph disease, the drug treatment alleviates disease pathogenesis by inducing neural progenitor proliferation, helping neurite growth, and improving synaptic functions (Mendonça et al. 2019). Before Ibuprofen, many other NSAIDs had been shown to present neuroprotective effects on several cellular and animal models of neurodegeneration (Stewart et al. 1997; McGeer and McGeer 1998; Pasinetti 1998). This led to the speculation that possibly the administration of the Ibuprofen might also present some therapeutic benefit to such kinds of disease conditions.
Pharmacotherapy for the management of the symptoms of Machado-Joseph Disease
Published in Expert Opinion on Pharmacotherapy, 2022
Jessica Blanc Leite Oliveira, Alberto R.M. Martinez, Marcondes Cavalcante França Jr
Spinocerebellar ataxias (SCA) represent a heterogeneous group of neurodegenerative disorders that share cerebellar ataxia and autosomal dominant inheritance as the core features [1]. Machado-Joseph disease or spinocerebellar ataxia type 3 (MJD/SCA3) is the most frequent SCA worldwide [2]. It is caused by (CAG) expansions (typically >51 repeats) in exon 10 of ATXN3, which lead to an abnormally long polyglutamine (polyQ) tract in the encoded protein, ataxin-3 [3]. Neurodegeneration in multiple regions within the central and peripheral nervous system then follows [4]. The cerebellum and its connections are major targets, explaining why ataxia is a hallmark of this disease.