1. A novel homozygous variant in RNF170 causes hereditary spastic paraplegia: a case report and review of the literature

   • Eliane Chouery
   • Cybel Mehawej
   • Andre Megarbane

   Original Article 18 January 2022 Pages: 85 - 90

2. Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations

   • Steffi Thust
   • Liana Veneziano
   • Paola Giunti

   Original Article Open access 25 January 2022 Pages: 91 - 102

   

3. Experiences in the molecular genetic and histopathological evaluation of calpainopathies

   • Berk Ozyilmaz
   • Ozgur Kirbiyik
   • Gulden Diniz

   Original Article 14 February 2022 Pages: 103 - 114

   

4. Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series

   • Anthony Cheung
   • Catherine Argyriou
   • Nancy Braverman

   Original Article 02 February 2022 Pages: 115 - 127

   

5. An intronic GNAO1 variant leading to in-frame insertion cause movement disorder controlled by deep brain stimulation

   • Sachiko Miyamoto
   • Mitsuko Nakashima
   • Hirotomo Saitsu

   Original Article 11 February 2022 Pages: 129 - 135

   

6. Detection of copy number variants and genes by chromosomal microarray in an Emirati neurodevelopmental disorders cohort

   • Nasna Nassir
   • Isra Sati
   • Ammar Albanna

   Original Article 24 March 2022 Pages: 137 - 149

   

7. Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration

   • Julia Macintosh
   • Alexa Derksen
   • Geneviève Bernard

   Short Communication 31 January 2022 Pages: 151 - 156

   

8. A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review

   • Salvatore Iacono
   • Elda Del Giudice
   • Rossella Spataro

   Short Communication 10 January 2022 Pages: 157 - 165