Adolescent ; Adult ; Base Sequence ; Female ; Humans ; Lamin Type A ; genetics ; Molecular Sequence Data ; Muscular Dystrophy, Emery-Dreifuss ; genetics ; Mutation

Neurofilament light chain (NfL), a sensitive biomarker of axonal damage, was found increasing in several neurological diseases. Parkinsonism is a group of clinical syndromes characterized by cardinal symptoms of bradykinesia, rigidity, and tremor, including Parkinson′s disease (PD) and parkinsonism plus syndrome (PPS). It is difficult in the diagnosis and differential diagnosis of PD and PPS, especially in the early stage. Evidence suggests that NfL in the cerebrospinal fluid and blood is a promising biomarker for the differential diagnosis of PD and PPS. This article reviewed and summarized the research progress of value of NfL in PD and PPS, and proposed future research directions.

OBJECTIVETo detect potential mutations of the spastic ataxia of Charlevoix-Saguenay (SACS) gene in a pedigree affected with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

METHODSGenomic DNA was extracted from peripheral blood samples of the proband and her family members. All exons and flanking sequences of the SACS gene were analyzed by high-throughput sequencing. Suspected mutations were verified with Sanger sequencing.

RESULTSNext generation sequencing revealed novel compound heterozygous mutations of the SACS gene, namely c.13085T to G (p.I4362R) and c.5236dupA (p.T1746fs), in the proband, which were respectively derived from her parents. The mutations were confirmed by Sanger sequencing.

CONCLUSIONThe c.5236dupA (p.T1746fs) and c.13085T to G (p.I4362R) mutations of the SACS gene probably underlie the ocular symptoms and hearing loss in the proband.