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Optimized RNA-seq workflow for routine diagnosis of mitochondrial diseases using aberrant expression analysis and phenotype-driven prioritization

PubMed - diagnostic errors AND neurology Published 12 Oct 2026 Relevancy: 70%

Mitochondrial diseases (MD) are the most common inherited metabolic disorders and show marked clinical and genetic heterogeneity. Despite widespread use of whole-exome (WES) and whole-genome sequencing (WGS), nearly half of patients remain without molecular diagnosis, partly due to difficulties in interpreting variants affecting RNA splicing or gene expression. RNA sequencing (RNA-seq) has shown promise in research settings, few studies have evaluated its feasibility in routine clinical...

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Temporal Sequence of Onset: ME/CFS-like Fatigue and Functional Neurological Disorder, 2026, Gaber et al.

Science 4 ME | FND Published 11 Oct 2026 Relevancy: 100%

Temporal Sequence of Onset: ME/CFS-like Fatigue and Functional Neurological Disorder Tarek A Z K Gaber; Clare Shippen; Francene Jones BACKGROUND Fatigue is the most prevalent and one of the most disabling symptoms of Functional Neurological Disorder (FND), yet its causal relationship to the... (Feed generated with FetchRSS )

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Taking a clinical history in adolescents and adults presenting with seizures or epilepsy

PubMed - neurological misdiagnosis Published 10 Oct 2026 Relevancy: 87%

Despite advances in EEG, neuroimaging, and other diagnostic technologies, a carefully obtained clinical history remains the cornerstone of diagnosis, classification, and treatment planning. However, structured guidance on history-taking that integrates state-of-the-art evidence and the updated 2025 International League Against Epilepsy (ILAE) seizure classification is limited. We performed a review of evidence published between January 2000 and April 2026, supplemented by landmark earlier...

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Bilateral upper-limb palsy of the newborn infant: Taxonomy, differential diagnosis, and clinical pathways

PubMed - neurological misdiagnosis Published 10 Oct 2026 Relevancy: 63%

Bilateral reduction or absence of upper-limb movement in a newborn infant is a rare but critical presentation that cannot be anchored on the unilateral paradigm of brachial plexus birth injury (BPBI). Bilaterality substantially widens the differential to include cervical spinal cord injury, neuromuscular disorders, and non-neurological movement limitation; thus, default attribution to bilateral BPBI risks missing a serious central pathology. No standardized terminology or investigation framework...

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Paralysis that rapidly moves up the body to the neck is NOT a feature of ME/CFS (there is literally no arguing this).

Zachary Grin Published 09 Oct 2026 FND proponent source Relevancy: 75%

Paralysis that rapidly moves up the body to the neck is NOT a feature of ME/CFS (there is literally no arguing this). Adam (@ABrokenBattery) Kieran developed severe ME at 13 after glandular fever. He spent years bedbound, and unable to speak. Now 23, he’s working full-time. When asked how he improved, he said it was care from his family, advice from the ME community and possibly a bit of luck. #MECFS Video — https://x.com/ABrokenBattery/status/2108125253310304714#m

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Recognising motor impersistence at the bedside

Practical Neurology - Online First Published 08 Oct 2026 Relevancy: 89%

Introduction Motor impersistence is the inability to sustain a voluntary movement or posture, such as keeping the eyes closed, the tongue protruded or an arm extended (despite adequate strength and initial effort). First described in patients with right-hemispheric brain lesions due to stroke,1–3 motor impersistence is now recognised in a wide range of neurological conditions. These include Huntington’s disease4 and other choreiform disorders,5 where motor impersistence accompanies chorea and represents a complementary failure to maintain, rather than to suppress, movement; neurodegenerative diseases such as Alzheimer’s disease6; callosal disconnection syndromes7–9 and focal lesions to various brain regions, particularly the right frontal and central regions10 but also the thalamus11–13 and basal ganglia.13 14 Clinically, motor impersistence is valuable as a relatively specific marker...

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R to @KH118118: And if anyone wants to read Healy’s full article and decide what they make of his comments on FND for themselves, here you go https://davidhealy.org/entranced-spellbound-mesmerized/

Kim Hearne Published 07 Oct 2026 FND proponent source Relevancy: 85%

And if anyone wants to read Healy’s full article and decide what they make of his comments on FND for themselves, here you go davidhealy.org/entranced-spe… Link Entranced, Spellbound, Mesmerized - Dr. David Healy Consent to Waltz, Capacity to Tango, Connect to.. using statin and antihypertensive examples shows how we on one side and our doctors on the other can get blindsided by treatment and end up incapac... davidhealy.org

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R to @KH118118: He then calls an FND diagnosis a “one-way ticket to never being taken seriously again”. From a professor of Psychiatry, about patients already battling stigma and disbelief. That isn’t exposing stigma. It’s actively reinforcing it.

Kim Hearne Published 07 Oct 2026 FND proponent source Relevancy: 100%

He then calls an FND diagnosis a “one-way ticket to never being taken seriously again”. From a professor of Psychiatry, about patients already battling stigma and disbelief. That isn’t exposing stigma. It’s actively reinforcing it. 2/4

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