Categories
Neurochecklists updates

20 recently updated practical neurology checklists

Neurochecklists is a comprehensive and practical neurology database

Handy and fully referenced, it is in a constant state of review and renewal

Below are just 21 of our recently updated neurology checklists

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Cervical artery dissection: clinical features 

Epilepsy: blood and CSF features 

Huntington’s disease: clinical features 

Leber hereditary optic neuropathy: management 

Parkinson’s disease tremor

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Behcet’s disease: clinical features

MND C9orf72 variant

Thrombectomy 

Neuropathy: toxic and drug-induced 

Narcolepsy: clinical features

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Epicrania fugax

West Nile virus: clinical features 

Thrombolysis: complications 

Migraine: CGRP monoclonal antibodies

Lambert Eaton myasthenic syndrome: clinical features

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Alzheimer’s disease

Pes cavus

Immune checkpoint inhibitor toxicity: management

Adrenoleukodystrophy: phenotypes

Myotonic dystrophy type 2: management

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Categories
Neurochecklists updates

30 recently revised and updated practical neurology checklists

Neurochecklists is proud of being comprehensive and practical.

But more than that, we take pride in keeping each checklist updated.

To do this, we keep a keen eye on all relevant developments in the literature.

And below are just a few of the checklists that we have recently revised.

They all reflect findings from the latest neurology publications.

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Anti Ma2 syndrome

Cerebral aneurysms rupture risk factors

Cerebral vein thrombosis

CGRP monoclonal antibodies

CJD

Dural AV fistula management

Giant cell arteritis treatment

Gluten sensitivity neurology

IIH clinical features

King-Denborough syndrome

Levetiracetam

Migraine acute treatment

MND c9orf72

Multiple sclerosis clinical features

Narcolepsy

Normal pressure hydrocephalus

Ocular myasthenia gravis

Oculopharyngeal muscular dystrophy

Ocrelizumab

Parkinson’s disease risk factors

Post stroke recrudescence

PSP variants

Psychogenic seizures

Rapid onset dystonia-parkinsonism

Retinal migraine

Seizure manifestations

Stiff person syndrome

Subacute combined degeneration

Suprascapular neuropathy

Thrombolysis

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Categories
Dementia Motor neurone disease

Do pre-symptomatic c9orf72 carriers have a brain MRI signature?

Gyrification abnormalities in presymptomatic c9orf72 expansion carriers

Caverzasi E, Battistella G, Chu SA, et al.

JNNP 2019; 90:1005-1010.

Abstract

OBJECTIVE:

To investigate in-vivo cortical gyrification patterns measured by the local gyrification index (lGI) in presymptomatic c9orf72 expansion carriers compared with healthy controls, and investigate relationships between lGI and cortical thickness, an established morphometric measure of neurodegeneration.

METHODS:

We assessed cortical gyrification and thickness patterns in a cohort of 15 presymptomatic c9orf72 expansion carriers (age 43.7 ± 10.2 years, 9 females) compared with 67 (age 42.4 ± 12.4 years, 36 females) age and sex matched healthy controls using the dedicated Freesurfer pipeline.

RESULTS:

Compared with controls, presymptomatic carriers showed significantly lower lGI in left frontal and right parieto-occipital regions. Interestingly, those areas with abnormal gyrification in presymptomatic carriers showed no concomitant cortical thickness abnormality. Overall, for both presymptomatic carriers and healthy controls, gyrification and cortical thickness measures were not correlated, suggesting that gyrification captures a feature distinct from cortical thickness.

CONCLUSIONS:

Presymptomatic c9orf72 expansion carriers show regions of abnormally low gyrification as early as their 30s, decades before expected symptom onset. Cortical gyrification represents a novel grey matter metric distinctive from grey matter thickness or volume and detects differences in presymptomatic carriers at an early age.

This paper is now cited in the neurochecklist:

Motor neurone disease (MND): C9orf72 variant

Abstract link

By U.S. National Library of Medicine – http://ghr.nlm.nih.gov/gene/C9orf72, Public Domain, Link
Categories
Motor neurone disease

Is the risk of melanoma increased in people with the C9orf72 variant of MND?

Increased risk of melanoma in C9ORF72 repeat expansion carriers: a case-control study.

Tábuas-Pereira M, Almendra L, Almeida MR, et al.

Muscle Nerve 2018 (Epub ahead of print).

Abstract

INTRODUCTION:

Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are considered part of the same pathological spectrum. There is an increased risk of ALS in patients who have had melanoma. The risk of FTLD in melanoma (or cancer) patients is unknown. We aimed to study if C9ORF72 expansion is linked to a higher prevalence of melanoma.

METHODS:

We selected patients with a diagnosis in the ALS-FTLD spectrum who were tested for pathogenic mutations. Medical history was reviewed, to identify those with pathologically documented melanomas.

RESULTS:

We included 189 patients. 62 had identified pathogenic mutations (39 C9ORF72). C9ORF72 carriers had a significantly higher risk of melanoma (OR=24.709, p<0.007). There was no association with phenotype.

DISCUSSION:

These findings suggest that patients with a history of melanoma may have an increased probability of carrying a C9ORF72 repeat expansion. ALS or FTLD carriers of C9ORF72 should undergo surveillance for skin changes.

This paper is cited in the Neurochecklist:

Motor neurone disease (MND): C9orf72 variant

Abstract link

 

By AjimonthomasOwn work, CC BY-SA 4.0, Link

 

Categories
Motor neurone disease

What determines the poor prognosis of C9orf72 MND?

 C9orf72 expansion differentially affects males with spinal onset amyotrophic lateral sclerosis

Rooney J, Fogh I, Westeneng HJ, et al.

JNNP 2016; pii: jnnp-2016-314093 (Epub ahead of print).

Abstract

INTRODUCTION:

The C9orf72 repeat expansion has been reported as a negative prognostic factor in amyotrophic lateral sclerosis (ALS). We have examined the prognostic impact of the C9orf72 repeat expansion in European subgroups based on gender and site of onset.

METHODS:

C9orf72 status and demographic/clinical data from 4925 patients with ALS drawn from 3 prospective ALS registers (Ireland, Italy and the Netherlands), and clinical data sets in the UK and Belgium. Flexible parametric survival models were built including known prognostic factors (age, diagnostic delay and site of onset), gender and the presence of an expanded repeat in C9orf72. These were used to explore the effects of C9orf72 on survival by gender and site of onset. Individual patient data (IPD) meta-analysis was used to estimate HRs for results of particular importance.

RESULTS:

457 (8.95%) of 4925 ALS cases carried the C9orf72 repeat expansion. A meta-analysis of C9orf72 estimated a survival HR of 1.36 (1.18 to 1.57) for those carrying the expansion. Models evaluating interaction between gender and C9orf72 repeat expansions demonstrated that the reduced survival due to C9orf72 expansion was being driven by spinal onset males (HR 1.56 (95% CI 1.25 to 1.96).

CONCLUSIONS:

This study represents the largest combined analysis of the prognostic characteristics of the C9orf72 expansion. We have shown for the first time that the negative prognostic implication of this variant is driven by males with spinal onset disease, indicating a hitherto unrecognised gender-mediated effect of the variant that requires further exploration.

This reference is now included in the neurochecklist:

Motor neurone disease (MND): familial types

screen-shot-2016-12-24-at-23-32-53

Abstract link

By U.S. National Library of Medicine - http://ghr.nlm.nih.gov/gene/C9orf72, Public Domain, Link
By U.S. National Library of Medicine – http://ghr.nlm.nih.gov/gene/C9orf72, Public Domain, Link