Genetic Transfer of the Wobbler Gene to a C57BL/6J × NZB Hybrid Stock: Natural History of the Motor Neuron Disease and Response to CNTF and BDNF Cotreatment

A 74-year-old farmer presented to the emergency department with a subacute history of progressive dyspnoea, wheeze and dysphonia. He was treated for an exacerbation of asthma with poor response to pharmacological therapy. Investigation of dysphonia via laryngoscopy identified a bilateral vocal cord palsy. Subsequently, the patient developed an episode of life-threatening stridor and hypercapnic respiratory failure requiring an emergency tracheostomy. Neurology input identified evidence of widespread muscle fasciculations on clinical examination. MRI of the brain and cervical spine were unremarkable. Electromyogram testing identified changes of acute denervation in several limbs consistent with a diagnosis of motor neuron disease (MND). Bilateral vocal cord palsy has been rarely reported in the literature as the heralding symptom resulting in the diagnosis of MND. In patients with a subacute onset of dysphonia, dyspnoea and stridor, MND should be a differential diagnosis.

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History of the Recognition of Motor Neuron Disease

Motor Neuron Disease in Adults ◽

10.1093/med/9780199783113.003.0001 ◽

2014 ◽

pp. 1-4

Keyword(s):

Motor Neuron ◽

Motor Neuron Disease ◽

History Of

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Presentation of motor neuron disease in a patient with weight loss and acute-on-chronic respiratory failure

BMJ Case Reports ◽

10.1136/bcr-2020-238789 ◽

2021 ◽

Vol 14 (4) ◽

pp. e238789

Author(s):

Tak Wai Chan

Keyword(s):

Weight Loss ◽

Respiratory Failure ◽

Motor Neuron ◽

Motor Neuron Disease ◽

Chronic Type ◽

Acute Medical Unit ◽

History Of ◽

Specific Symptoms ◽

Remote Consultations

A previously fit and well 72-year-old man was referred to the acute medical unit with acute shortness of breath and confusion. He had presented 6 months earlier to his General Practitioner with a 6-month history of weight loss and lethargy. Despite CT imaging and extensive blood tests, no cause was found. He was having ongoing outpatient investigations, including a respiratory review leading up to his admission; the deterioration in his condition also coincided with the implementation of the COVID-19 lockdown. On admission, he was found to be in acute-on-chronic type 2 respiratory failure; examination revealed scattered fasciculations. Further inpatient electromyography (EMG) and nerve conduction study (NCS) confirmed motor neuron disease (MND). This case highlighted the importance of considering neuromuscular causes for acute respiratory failure in acute presentations and demonstrated the challenges in the diagnosis of MND in those presenting atypically with non-specific symptoms and the limitations of remote consultations in complex cases.

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Sensory Neuron Degeneration in Familial Kugelberg-Welander Disease

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ◽

10.1017/s0317167100028535 ◽

1989 ◽

Vol 16 (1) ◽

pp. 67-70 ◽

Cited By ~ 4

Author(s):

Toni R. Winder ◽

Roland N. Auer

Keyword(s):

Motor Neuron ◽

Motor Neuron Disease ◽

Sensory Neurons ◽

Dorsal Root Ganglia ◽

Dorsal Root ◽

Cell Loss ◽

Motor Deficits ◽

History Of ◽

Nuclear Changes ◽

Phrenic Nucleus

ABSTRACT:A 53 year old man developed symptoms of motor neuron disease in childhood. There was a family history of a similar disorder and it was felt to represent a form of Kugelberg-Welander disease. In addition to the motor deficits, sensory abnormalities in his legs were documented during life. Autopsy revealed anterior horn cell loss throughout the length of the spinal cord, with preservation of the phrenic nucleus. The lumbar dorsal root ganglia showed active degeneration of sensory neurons, with nuclear changes exceeding cytoplasmic ones. The fasciculus gracilis showed Wallerian degeneration. The findings provide direct evidence that sensory neurons can degenerate in some forms of motor neuron disease, and that the “demyelination” or “degeneration” of posterior columns sometimes seen in the various forms of motor neuron disease may actually be secondary to cell body disease in the dorsal root ganglia.

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Relationship between neuropsychiatric disorders and cognitive and behavioural change in MND

Journal of Neurology Neurosurgery & Psychiatry ◽

10.1136/jnnp-2019-321737 ◽

2019 ◽

Vol 91 (3) ◽

pp. 245-253 ◽

Cited By ~ 1

Author(s):

Caroline A McHutchison ◽

Danielle Jane Leighton ◽

Andrew McIntosh ◽

Elaine Cleary ◽

Jon Warner ◽

...

Keyword(s):

Cognitive Impairment ◽

Family History ◽

Motor Neuron ◽

Motor Neuron Disease ◽

Frontotemporal Dementia ◽

Mood Disorders ◽

Behavioural Change ◽

Neuropsychiatric Disorders ◽

Neuropsychiatric Disorder ◽

History Of

ObjectiveIn this population-based study, we aimed to determine whether neuropsychiatric history, medication or family history of neuropsychiatric disorders predicted cognitive and/or behavioural impairment in motor neuron disease (MND).MethodsPeople with MND (pwMND) on the Scottish Clinical, Audit, Research and Evaluation of MND (CARE-MND) register, diagnosed from January 2015 to January 2018, with cognitive and/or behavioural data measured using the Edinburgh Cognitive and Behavioural ALS Screen were included. Data were extracted on patient neuropsychiatric, medication and family history of neuropsychiatric disorders. We identified patients with cognitive impairment (motor neuron disease with cognitive impairment (MNDci)), behavioural impairment (motor neuron disease with behavioural impairment (MNDbi), both (motor neuron disease with cognitive and behavioural impairment (MNDcbi)) or motor neuron disease–frontotemporal dementia (MND-FTD).ResultsData were available for 305 pwMND (mean age at diagnosis=62.26 years, SD=11.40), of which 60 (19.7%) had a neuropsychiatric disorder. A family history of neuropsychiatric disorders was present in 36/231 (15.58%) of patients. Patient premorbid mood disorders were associated with increased apathy (OR=2.78, 95% CI 1.083 to 7.169). A family history of any neuropsychiatric disorder was associated with poorer visuospatial scores, MNDbi (OR=3.14, 95% CI 1.09 to 8.99) and MND-FTD (OR=5.08, 95% CI 1.26 to 20.40). A family history of mood disorders was associated with poorer overall cognition (exp(b)=0.725, p=0.026), language, verbal fluency and visuospatial scores, and MND-FTD (OR=7.57, 95% CI 1.55 to 46.87). A family history of neurotic disorders was associated with poorer language (exp(b)=0.362, p<0.001), visuospatial scores (exp(b)=0.625, p<0.009) and MND-FTD (OR=13.75, 95% CI 1.71 to 110.86).ConclusionNeuropsychiatric disorders in patients and their families are associated with cognitive and behavioural changes post-MND diagnosis, with many occurring independently of MND-FTD and C9orf72 status. These findings support an overlap between MND, frontotemporal dementia and neuropsychiatric disorders, particularly mood disorders.

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