Iron-sensitive MR imaging of the primary motor cortex to differentiate hereditary spastic paraplegia from other motor neuron diseases

Cosottini, Mirco; Donatelli, Graziella; Ricca, Ivana; Bianchi, Francesca; Frosini, Daniela; Montano, Vincenzo; Migaleddu, Gianmichele; Prete, Eleonora Del; Tessa, Alessandra; Cecchi, Paolo; D'Amelio, Claudio; Siciliano, Gabriele; Mancuso, Michelangelo; Santorelli, Filippo M.

doi:10.1007/s00330-022-08865-6

Cited by 8 publications

(7 citation statements)

References 60 publications

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“…ALS was the most common differential diagnosis in our cohort (shown in Figure 2A), which is a relatively rapidly progressing fatal neurodegenerative disease, and patients often die in 3-5 years due to respiratory failure (Borghero et al, 2022), while HSP generally does not affect survival. The confirmed HSP patients had an earlier AAO and longer DD than the confirmed ALS patients in our cohort, consistent with previous studies and clinical practice (Cosottini et al, 2022). Primary lateral sclerosis (PLS) often presents with spastic paraplegia in elderly patients (predominantly male) and progresses to involve bulbar regions.…”

Section: Discussionsupporting

confidence: 91%

Clinical features and genetic spectrum of Chinese patients with hereditary spastic paraplegia: A 14-year study

He²,

Liu³

et al. 2023

Front. Genet.

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Background: Hereditary spastic paraplegia (HSP) constitutes a group of clinically and genetically rare neurodegenerative diseases characterized by progressive corticospinal tract degeneration. The phenotypes and genotypes of HSP are still expanding. In this study, we aimed to analyse the differential diagnosis, clinical features, and genetic distributions of a Chinese HSP patients in a 14-year cohort and to improve our understanding of the disease.Methods: The clinical data of patients with a primary diagnosis of HSP at the initial visit to the Department of the Neurology, Peking University Third Hospital, from 2008 to 2022 were retrospectively collected. Next-generation sequencing gene panels (NGS) combined with a multiplex ligation-amplification assay (MLPA) were conducted. Epidemiological and clinical features and candidate variants in HSP-related genes were analyzed and summarized.Results: 54 cases (probands from 25 different pedigrees and 29 sporadic cases) from 95 patients with a primary diagnosis of HSP were finally confirmed to have a clinical diagnosis of HSP based on clinical criteria, including their clinical findings, family history and long-term follow-up. Earlier disease onset was associated with longer diagnostic delay and longer disease duration and was associated with a lower risk of loss of ability to walk independently. In addition, 20 candidate variants in reported HSP-related genes were identified in these clinically diagnosed HSP patients, including variants in SPAST, ALT1, WASHC5, SPG11, B4GALNT1, and REEP1. The genetic diagnostic rate in these 54 patients was 35.18%.Conclusion: Hereditary spastic paraplegia has high clinical and genetic heterogeneity and is prone to misdiagnosis. Long-term follow-up and genetic testing can partially assist in diagnosing HSP. Our study summarized the clinical features of Chinese HSP patients in a 14-year cohort, expanded the genotype spectrum, and improved our understanding of the disease.

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Section: Discussionsupporting

confidence: 91%

Clinical features and genetic spectrum of Chinese patients with hereditary spastic paraplegia: A 14-year study

He²,

Liu³

et al. 2023

Front. Genet.

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Section: Discussionsupporting

confidence: 87%

“…Nevertheless, our results highlight the potential of MBS in a real clinical setting in distinguishing ALS from other neurodegenerative conditions, which is also supported by previous research. 25 This is an important aspect, as accurate and early diagnosis of ALS remains challenging due to the heterogeneity in clinical presentation and the absence of a definitive diagnostic test. Notably, the ALS mimics group consisted of a clinically highly relevant comparative group with 79 consecutive patients initially referred to the clinic on suspicion of ALS, but finally diagnosed with other (primarily neurological) conditions.…”

Section: Discussionmentioning

confidence: 99%

Motor band sign is specific for amyotrophic lateral sclerosis and corresponds to motor symptoms

Zejlon,

Sennfält,

Finnsson

et al. 2024

Ann Clin Transl Neurol

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ObjectiveMagnetic resonance imaging can detect neurodegenerative iron accumulation in the motor cortex, called the motor band sign. This study aims to evaluate its sensitivity/specificity and correlations to symptomatology, biomarkers, and clinical outcome in amyotrophic lateral sclerosis.MethodsThis prospective study consecutively enrolled 114 persons with amyotrophic lateral sclerosis and 79 mimics referred to Karolinska University Hospital, and also 31 healthy controls. All underwent 3‐Tesla brain susceptibility‐weighted imaging. Three raters independently assessed motor cortex susceptibility with total and regional motor band scores. Survival was evaluated at a median of 34.2 months after the imaging.ResultsThe motor band sign identified amyotrophic lateral sclerosis with a sensitivity of 59.6% and a specificity of 91.1% versus mimics and 96.8% versus controls. Higher motor band scores were more common with genetic risk factors (p = 0.032), especially with C9orf72 mutation, and were associated with higher neurofilament light levels (std. β 0.22, p = 0.019). Regional scores correlated strongly with focal symptoms (medial region vs. gross motor dysfunction, std. β −0.64, p = 0.001; intermediate region vs. fine motor dysfunction, std. β −0.51, p = 0.031; lateral region vs. bulbar symptoms std. β −0.71, p < 0.001). There were no associations with cognition, progression rate, or survival.InterpretationIn a real‐life clinical setting, the motor band sign has high specificity but relatively low sensitivity for identifying amyotrophic lateral sclerosis. Associations with genetic risk factors, neurofilament levels and somatotopic correspondence to focal motor weakness suggest that the motor band sign could be a suitable biomarker for diagnostics and clinical trials in amyotrophic lateral sclerosis.

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“…A recent study identified MBS in 5% (7/157) of MND patients with only T2/FLAIR images and in 78% (7/9) of those with SWI images 4. 7-Tesla MRI has a higher sensitivity than 3-Tesla imaging5 and has identified a correlation between motor cortex hypointensity and the severity of clinical upper motor neurone impairment 6 7. MBS has been recognised in those with early (King’s College ALS stage I) disease,4 but robust prospective studies are needed to evaluate the prevalence of MBS in different MND subtypes and clinical stages 4 8…”

Section: Descriptionmentioning

confidence: 99%

Motor band sign: a magnetic resonance imaging clue in motor neurone disease

Whittam,

Hyde,

Zambo

et al. 2023

BMJ Case Rep

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Iron-sensitive MR imaging of the primary motor cortex to differentiate hereditary spastic paraplegia from other motor neuron diseases

Cited by 8 publications

References 60 publications

Clinical features and genetic spectrum of Chinese patients with hereditary spastic paraplegia: A 14-year study

Clinical features and genetic spectrum of Chinese patients with hereditary spastic paraplegia: A 14-year study

Motor band sign is specific for amyotrophic lateral sclerosis and corresponds to motor symptoms

Motor band sign: a magnetic resonance imaging clue in motor neurone disease

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