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Is the risk of motor neuron disease increased or decreased after cancer? An Australian case-control study.

Is the risk of motor neuron disease increased or decreased after cancer? An Australian case-control study.

Cancer appears to be inversely associated with both Alzheimer’s and Parkinson’s disease. The relationship between cancer and sporadic motor neuron disease (SMND), however, remains uncertain. Most previous cancer-SMND studies have been undertaken in northern hemisphere populations. We therefore undertook a case-control study to see if a link between cancer and SMND exists in an Australian population. A questionnaire was used to compare past cancer diagnoses in 739 SMND patients and 622 controls, recruited across Australia. Odds ratios with 95% confidence intervals were calculated to look for associations between cancer and SMND. A history of cancer was not associated either positively or negatively with a risk of subsequent SMND. This result remained when age, gender, smoking status, and the four SMND diagnostic subgroups were taken into account. No association was observed between SMND and specific tumours, including melanoma, a common malignancy in Australia. In conclusion, this Australian case-control study does not support an association between a past history of cancer and the development of SMND. This suggests that some pathogenetic mechanisms, such as apoptosis, are less relevant in SMND than in other neurodegenerative diseases where negative associations with cancer have been found.
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SCA2 presenting as an ataxia-parkinsonism-motor neuron disease syndrome

SCA2 presenting as an ataxia-parkinsonism-motor neuron disease syndrome

his report highlights that unusual phenotypes such as an ataxia-parkinsonism-motor neuron disease syn- drome may be found in SCA 2 individuals. his raises several questions such as whether or not patients inves- tigating MND with or without known family members with cerebellar ataxia should be routinely screened for ATXN2 . Future studies with larger series are welcome to address these questions.

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Sialorrhoea: How to Manage a Frequent Complication of Motor Neuron Disease

Sialorrhoea: How to Manage a Frequent Complication of Motor Neuron Disease

Sialorrhoea, the unintentional loss of saliva through the mouth, is the frequent complication of neurological disorders afecting strength or coordination of oropharyngeal muscles, such as motor neuron disease/amyotrophic lateral sclerosis (MND/ALS) or Parkinson’s disease. Sialorrhoea might afect up to 42% of ALS patients, with almost half of them having poorly managed symptoms. Sialorrhoea can impair patients’ social life, while dermatological complications, such as skin rashes, may arise due to constant exposure to moisture. Moreover, the excess mouth-retained saliva in ALS patients may lead to serious complications, such as choking, which causes anxiety, and aspiration with the consequent pneumonia. The inclusion of a sialorrhoea-related item in the ALS functional rating scale testiies both the incidence and importance of sialorrhoea during the ALS clinical course. Because of the progressive nature of ALS, presence and severity of sialorrhoea should be assessed at every visit and, when present, active treatment pursued. Available treatments include behavioural therapy, i.e. techniques to enhance periodic swallowing of saliva, systemic or local anticholinergic medications, botulinum toxin injection, electron beam irradiation, and surgical techniques. This review paper briely describes the available options with related side-efects and current guideline recommendations for managing sialorrhoea in ALS patients.
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Vitamin B12 deficiency mimicking neuroimaging features of motor neuron disease

Vitamin B12 deficiency mimicking neuroimaging features of motor neuron disease

A 45-year-old man presented with 2-month-history of progressive gait disturbances and behavioral changes. Exa- mination showed vibration sense compromise and pyrami- dal signs of release. Blood test revealed low serum vitamin B12 (120 pg/mL; normal range>200 pg/mL). Brain MRI dis- closed hyperintense signal in corticospinal tracts, a similar pattern observed in motor neuron disease (MND) (Figure).

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Linear associations between clinically assessed upper motor neuron disease and diffusion tensor imaging metrics in amyotrophic lateral sclerosis.

Linear associations between clinically assessed upper motor neuron disease and diffusion tensor imaging metrics in amyotrophic lateral sclerosis.

Our study also found that the clinical metric that best related to DTI changes was the Penn UMN Score, not ALSFRS-R or duration of disease. The UMN score we described, which partially accommodated for a confounded UMN examination in the presence of possible LMN disease by incorporating prior visit data, probably represented an improvement over purely cross-sectional assessments of UMN disease, although it still would not correct for the confounding possibility of LMN degeneration at the initial time point. For ALSFRS-R, the poor contribution to the regression model was not surprising, since this score has been known to be affected by both UMN and LMN disease. The reason why our study failed to corroborate the previously suggested relationship between DTI metrics and duration of disease was not immediately apparent, but may have been due to inherent differences in the patient populations studied. Notably, the duration-of-disease predictor fell just short of significance (p = 0.09) in the full regression model for FA.
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Arq. NeuroPsiquiatr.  vol.65 número1

Arq. NeuroPsiquiatr. vol.65 número1

13. Summers BA, Swash M, Swartz MS, Ingram DA. Juvenile onset bul- bospinal muscular atrophy with deafness: Vialetto-van Laere syndrome or Madras type motor neuron disease? J Neurol 1987;234:440-442. 14. Gallai V, Hockaday JM, Hughes JT, et al. Ponto-bulbar palsy with deaf-

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Arq. NeuroPsiquiatr.  vol.73 número3

Arq. NeuroPsiquiatr. vol.73 número3

Neuropathological studies have been widely performed in C9orf72-related disorders. Gross pathology examination generally shows global brain atrophy, particularly of the frontal and temporal lobes with mild to moderate subcorti- cal involvement. Microscopic evaluation unveils neuronal degeneration and loss with variable degrees of gliosis and superficial laminar spongiosis (depending on disease stage), but rarely with Pick bodies and with relative paucity of amy- loid plaques and neurofibrillary tangles. Myelin loss in the corticospinal tracts with moderate to severe degeneration of the motor system is also described in cases of FTD even without clinical features of motor neuron disease 9,19 . Marked
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Facial grimacing as a clue for the diagnosis of GM1 type 3 gangliosidosis

Facial grimacing as a clue for the diagnosis of GM1 type 3 gangliosidosis

his report highlights that unusual phenotypes such as an ataxia-parkinsonism-motor neuron disease syn- drome may be found in SCA 2 individuals. his raises several questions such as whether or not patients inves- tigating MND with or without known family members with cerebellar ataxia should be routinely screened for ATXN2 . Future studies with larger series are welcome to address these questions.

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Arq. NeuroPsiquiatr.  vol.75 número5

Arq. NeuroPsiquiatr. vol.75 número5

A myotrophic lateral sclerosis (ALS) is the commonest clinical form of the wider neu- rodegenerative syndrome encompassed by the term motor neuron disease (MND). ALS has a consistent incidence of 1-2/100,000/year, and a lifetime risk estimated at 1 in 400. he disease is characterized by the progressive death of upper motor neurons (UMNs) of the cerebral primary motor cortex and corticospinal tract, in combination with degen- eration of lower motor neurons (LMNs) whose origins lie in the brainstem and spinal anterior horns. Loss of motor neurons in general results in weakness, but speciically loss of LMNs results in secondary wasting of the downstream musculature and spasticity arises from loss of UMNs 1 .
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Therapeutic advances in 5q-linked spinal muscular atrophy

Therapeutic advances in 5q-linked spinal muscular atrophy

Spinal muscular atrophy (SMA) is a severe and clinically-heterogeneous motor neuron disease caused, in most cases, by a homozygous mutation in the SMN1 gene. Regarding the age of onset and motor involvement, at least four distinct clinical phenotypes have been recognized. This clinical variability is, in part, related to the SMN2 copy number. By now, only supportive therapies have been available. However, promising specific therapies are currently being developed based on different mechanisms to increase the level of SMN protein; in particular, intrathecal antisense oligonucleotides that prevent the skipping of exon 7 during SMN2 transcription, and intravenous SMN1 insertion using viral vector. These therapeutic perspectives open a new era in the natural history of the disease. In this review, we intend to discuss the most recent and promising therapeutic strategies, with special consideration to the pathogenesis of the disease and the mechanisms of action of such therapies.
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Arq. NeuroPsiquiatr.  vol.73 número12 X anp X20150161

Arq. NeuroPsiquiatr. vol.73 número12 X anp X20150161

FTD-ALS type 2 (MIM #615911) represents a rare au- tosomal dominant form of familial ALS with frontotem- poral dementia, resulting from heterozygous mutations in the CHCHD10 gene (Coiled-coil-helix-coiled-coil-helix domain-containing protein 10; 22q11.23), coding the CHCHD10 protein, involved in oxidative phosphorylation and maintenance of cristae morphology in the inner inter- membranous mitochondrial space. In France and Spain pa- tients around the ifth decade of life present with complex neurological phenotypes involving frontotemporal demen- tia, cerebellar ataxia, myopathy with ragged-red ibers and COX-negative ibers, motor neuron disease with progressive bulbar dysfunction, and rarely with akinetic-rigid parkinson- ism and sensorineural deafness 50 .
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X-linked spinal and bulbar muscular atrophy (Kennedy’s disease): the first case described in the Brazilian Amazon

X-linked spinal and bulbar muscular atrophy (Kennedy’s disease): the first case described in the Brazilian Amazon

The X-linked spinal and bulbar muscular atrophy (Kennedy’s disease) is a rare X-linked, recessive, lower motor neuron disease, characterized by weakness, atrophy, and fasciculations of the appendicular and bulbar muscle. The disease is caused by an expansion of the CAG repetition in the androgen receptor gene. Patients with Kennedy’s disease have more than 39 CAG repetitions. We report a case of 57-year-old man, resident of Monte Dourado (PA, Brazil) who complained of brachiocrural paresis evolving for 3 years along with fasciculations and tremors of extremities. In addition, he also developed dysarthria, dysphagia, and sexual dysfunction. The patient clinical picture included gait impairment, global hyporeflexia, proximal muscle atrophy of upper limbs, deviation of the uvula to right during phonation and tongue atrophy with fasciculations. The patient reported that about 30 years ago he had undergone gynecomastia surgery. His electroneuromyography suggested spinal muscular atrophy, and nuclear magnetic resonance imaging showed tapering of the cervical and thoracic spinal cord. Patient’s creatine kinase level was elevated. In view of the findings, an exam was requested to investigate Kennedy’s disease. The exam identified 46 CAG repetitions in the androgen receptor gene, which confirmed the diagnostic suspicion. This was the first case of Kennedy’s disease diagnosed and described in the Brazilian Amazon. To our knowledge only other four papers were published on this disease in Brazilian patients. A brief review is also provided on etiopathogenic, clinical and diagnostic aspects.
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Arq. NeuroPsiquiatr.  vol.58 número4

Arq. NeuroPsiquiatr. vol.58 número4

Motor neuron diseases (MNDs) constitute a group of affective disorders centred on impairment of motor neurons. This group includes diseases such as: (1) motor neuron diseases with paretic manifestations (weakness, wasting, fasciculations and loss of reflex) or overactive manifestations (cramps, twitching of muscles, spasms) due to affection of the perikaryon of motor neurons and (2) motor neuron disease that involves syndromes such as amyotrophic lateral sclerosis (with upper and lower motor neuron signs) and its variants: progressive muscular atrophy (PMA) (with lower motor neuron signs only), progressive bulbar palsy (PBP) (with lower, and sometime upper, bulbar motor neuron signs) and primary lateral sclerosis (PLA) (with upper motor neuron signs only) 1 .
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Dement. neuropsychol.  vol.8 número1

Dement. neuropsychol. vol.8 número1

century. Hitherto, it was believed that dementia was a rare event due to the fortuitous association with other diseases. In 1924, Kostantin Nikolaevich Tretiakoff and Moacyr de Freitas Amorim reported a case of dementia with features of frontotemporal dementia (FTD) that preceded the motor signs of ALS. Neuropathological examination confirmed ALS and found no signs of other dementia-causing diseases. The authors hypothesized that dementia was part of ALS and recommended the search for signs of involvement of motor neurons in cases of dementia with an ill-defined clinical picture, a practice currently accepted in the investigation of cases of FTD. This was one of the first descriptions of dementia preceding the motor impairments of ALS and was published in Portuguese and French in Memórias do Hospício de Juquery. Key words: dementia, frontotemporal dementia, amyotrophic lateral sclerosis, neuropathology, motor neuron disease
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Arq. NeuroPsiquiatr.  vol.73 número4

Arq. NeuroPsiquiatr. vol.73 número4

We describe 03 patients with motor neuron disease: one with primary lateral sclerosis (PLS) (Figure 1) and two with amy- otrophic lateral sclerosis (ALS) (Figures 2 and 3) whose brain MRI disclosed hypointense signal in precentral gyri gray matter in susceptibility weighted imaging (SWI) in High-Field MRI (3T).

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Arq. NeuroPsiquiatr.  vol.66 número4

Arq. NeuroPsiquiatr. vol.66 número4

We present an unusual report of a patient with EF and clinical and EMG characteristics of a lower neuron disease suggestive of motor neuron disease (MND), such as ALS. We also discuss the role of clinical signs in differential di- agnosis of MND and some ALS mimickers.

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Arq. NeuroPsiquiatr.  vol.71 número12

Arq. NeuroPsiquiatr. vol.71 número12

The current state of evidence in non-pharmacological treatments amounts to an impending paradigm shift in neurology where physicians should be alerted that some rehabilitation interventions are already supported in current therapeutic guidelines. This manuscript aims to overview the best scientiic data supporting referral to rehabilitation services in order to help physicians make the best use of the existing evidence for non-pharmacological treatments in the different stages of Parkinson´s disease.

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Nutritional care in motor neurone disease/ amyotrophic lateral sclerosis

Nutritional care in motor neurone disease/ amyotrophic lateral sclerosis

Some patients adopt alternative treatments through self- medication with micronutrients, especially because the ac- cumulation of free radicals and oxidative stress have been proposed as factors that contribute to progression of disease. A systematic review selected all randomised or quasi-ran- domised studies controlled in treatment with an tioxidants in ALS, i.e. Cochrane Neuromuscular Disease Group Trials re gister (August 2005), MEDLINE ( from January 1996 to August 2005), EMBASE ( from January 1980 to August 2005), showed insuicient evidence for the eicacy of using antioxi- dants to treat such patients. Although there is not substantial evidence from clinical trials to support the clinical use of an- tioxidants, there is no contraindication 47 .
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Braz. J. Phys. Ther.  vol.10 número2

Braz. J. Phys. Ther. vol.10 número2

As part of the training process, the therapist may direct the patient’s focus of attention away from an internal body- oriented focus (the feet or upper body movement) to an external focus that is directly related to the goal (avoiding obstacles on the floor). For example, the learner’s focus of attention can shift as muscle strength, motor control and skill increase. In walking it may shift from the feet to the surrounding environment; the star billing for sit-to-stand may change from initial foot placement backward and increasing the speed of forward rotation of the upper body, to the need to steady a glass of water while standing up. Some recent
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Arq. NeuroPsiquiatr.  vol.67 número1

Arq. NeuroPsiquiatr. vol.67 número1

cal for Tay-Sachs, are not apparent in these patients. All of the GM2 gangliosidosis subtypes are inherited in an auto- somal recessive fashion and the differences in age at onset and disease course may be partly attributed to the under- lying Hex A gene defect. Patients with infantile onset tend to be homozygous or compound heterozygote for severe, deleterious (“null”) alleles, whereas patients with late-on- set disease have a combination of one severe and anoth- er allele associated with residual Hex A activity 3 . Late on-

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