JNNP: Genotype-related cerebellar features of ALS: focal cerebellar pathology and changes in brain-cerebellar connections

Although cerebellar involvement is a common clinical feature of amyotrophic lateral sclerosis (ALS), changes in the brain-cerebellar connection are mainly inferred from functional studies, and the cerebellar characteristics of specific genotypes have not yet been determined
.

Most imaging studies of ALS speculate that the cerebellum plays a compensatory role in the process of progressive supratentorial degeneration, but autopsy studies have not yet confirmed this change

Common clinical manifestations of ALS, such as pseudobulbar involvement, dysarthria, dysphagia, abnormal eye movements, behavioral dysfunction, and social cognitive impairment, are usually only related to cortical medullary tract degeneration, brain stem and cranial neuropathy, Orbitofrontal atrophy is related, which ignores the possible contribution of cerebellar pathology to these symptoms
.

The defect of directly linking imaging findings with clinical observations is well recognized, but the true value of computational imaging in ALS lies in its ability to describe in vivo disease burden patterns in a fair and descriptive manner

The main goal of this article is to conduct a comprehensive and multi-parameter assessment of intracerebellar pathology and brain-cerebellar connections in a cohort of ALS patients

Contrast methods and anatomical targets for fronto-pontine cerebellar tract (FPC), top-pontine cerebellar tract (PPC), occipito-pontine cerebellar tract (OPC), temporopontine cerebellar tract (TPC), and dentate erythalamic cortical tract (DRTC)

The frequency of repeated amplification of pathogenic C9orf72 in the genotype cohort was 7.
6%
.

The ATXN2 allele contains 8 to 91 trinucleotide repeats.

Corrected FWE-TFCE according to age, gender, and total intracranial volume.
Cerebellar gray matter changes shown by focal partial volume reduction at p<0.
05

A total of 161 ALS patients and 110 healthy controls (HC, average age: 59.
2 ± 10.
5) MRI data can be used for analysis
.

Divide ALS patients into three groups: (1) Sporadic diseases with established mutation test negative ('ALS-NEG', n=133, average age: 61.

ALS-NEG’s cerebral cerebellar tractography showed decreased FA in FPC (left cerebellar hemisphere to contralateral brain) and DRTC (left cerebellar hemisphere to contralateral brain), as well as left to contralateral FPC and left to contralateral DRTC The RD increases
.

In patients with ALS-C9, FA decreased from left to contralateral FPC and left to contralateral PPC, and RD from left to contralateral FPC and left to contralateral PPC increased

In short, ALS is characterized by focal rather than global cerebellar degeneration
.

The pathological symptoms of ALS are usually attributed to other anatomical areas, such as dysarthria, dysphagia, pseudosphere emotion, abnormal eye movements, and cognitive deficits, which can be adjusted, aggravated or partially driven by ALS's cerebellar changes

In short, ALS is characterized by focal rather than global cerebellar degeneration
.
The pathological symptoms of ALS are usually attributed to other anatomical areas, such as dysarthria, dysphagia, pseudosphere emotion, abnormal eye movements, and cognitive deficits, which can be adjusted, aggravated or partially driven by ALS's cerebellar changes
.
BedeP ,  Chipika  RH ,  Christidi  F Bede  P Bede Chipika  RH Chipika Christidi  F Christidi , et al Genotype-associated cerebellar profiles in ALS: focal cerebellar pathology and cerebro-cerebellar connectivity alterations Journal of Neurology, Neurosurgery & Psychiatry  Published Online First:  24 June 2021.
  Published Online First: doi: 10.
1136/jnnp-2021-326854 doi: Leave a message here