Author

H. Houlden

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Case report Open access Oct 2026

Anti-CASPR2 antibody associated Morvan syndrome in adolescents: dramatic response to immunotherapy: a case series.

BACKGROUND Morvan Syndrome is an ultra rare autoimmune channelopathy characterized by neuromyotonia, autonomic instability, and central nervous system involvement. While typically associated with thymoma in adults, its manifestation in adolescents is exceptionally rare and poses significant diagnostic challenges. CAS...

B. Aynekin, S. Efthymiou, H. Houlden et al. · Brain & development (Tokyo.... · 0 citations

Case report Open access Aug 2026

Hereditary neurodegenerative disorders with spastic-ataxic manifestations: genetic and clinical insights into previously reported variants

The pathogenic relevance of the identified variants are underscore the pathogenic relevance of the identified variants and pinpoint their importance for regional diagnostic and genetic counseling strategies.

Riaz Ahmad, Kanwal Ayaz, M. Khan et al. · Neurogenetics · 0 citations

Case report Open access Sep 2026

Whole-exome sequencing reveals a novel frameshift and a recurrent nonsense SPG11 variant causing rare familial amyotrophic lateral sclerosis type 5 in two consanguineous Pakistani families

The findings describe the overlapping phenotypes of SPG11-related autosomal recessive juvenile ALS and ARHSP, suggesting that these disorders show a clear overlapping phenotype with common genetic defects, and it is challenging to distinguish between these two disorders.

Riaz Ahmad, Muhammad Naeem, H. Houlden · Molecular Biology Reports · 0 citations