Background Alzheimer’s disease (AD) is a devastating neurodegenerative disease leading
to dementia. The field has made significant progress over the last 15 years. AD diagnosis …

Background Whole-exome sequencing (WES) has been successful in identifying genes that
cause familial Parkinson’s disease (PD). However, until now this approach has not been …

Abnormal accumulation of undigested macromolecules, often disease-specific, is a major
feature of lysosomal and neurodegenerative disease and is frequently attributed to defective …

A non-coding hexanucleotide repeat expansion (HRE) in C9orf72 is a common cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) acting through a loss of …

Hereditary ataxias are clinically and genetically heterogeneous neurodegenerative
disorders. Although many ataxia genes have been identified, about 50% of cases await the …

The ubiquitylation/deubiquitylation balance in cells is maintained by deubiquitylating enzymes,
including ATXN3. The precise role of this protein, mutated in spinocerebellar ataxia type …

Objective: To discover novel susceptibility genes for Parkinson’s disease (PD). Background:
Recently, whole-exome sequencing (WES) has accelerated the identification of familial PD …

Frontotemporal dementia (FTD) is a progressive brain disease characterized by atrophy of
the frontal and anterior temporal lobes. The prevalence has been estimated between 10 and …

Mutations in MAPT are a major cause of frontal temporal dementia (FTD) of which a subgroup
alters alternative splicing of TAU mRNA, primarily resulting in excess inclusion of exon 10. …

… Sunita Biswas, Sasja Heetveld, Pavlina Wolf, Yi Cao, Stephanie Norton, Stephen
Haggarty, Susan Cotman …