Pontocerebellar Hypoplasia Type 1

A hereditary neurodegenerative disorder characterized by central and peripheral motor dysfunction associated with ANTERIOR HORN CELL degeneration. Mutations in the VRK1 gene have been identified. OMIM: 607596

Also Known As:

Networked: 2 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Spinocerebellar Ataxias (Spinocerebellar Ataxia)
2.	Hereditary Spastic Paraplegia
3.	Intellectual Disability (Idiocy)
4.	Atrophy

Experts

1.	Barresi, Sabina: 1 article (11/2013)
2.	Bertini, E: 1 article (11/2013)
3.	Dallapiccola, Bruno: 1 article (11/2013)
4.	Fang, Mingyan: 1 article (11/2013)
5.	Ferlini, Alessandra: 1 article (11/2013)
6.	Gualandi, Francesca: 1 article (11/2013)
7.	Passarelli, Chiara: 1 article (11/2013)
8.	Scotton, Chiara: 1 article (11/2013)
9.	Wei, Wang: 1 article (11/2013)
10.	Wu, Bin: 1 article (11/2013)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Pontocerebellar Hypoplasia Type 1:

1.	Proteins (Proteins, Gene)FDA Link 11/01/2013 - "Whole exome sequencing in two-generational kindred from Bangladesh with early onset spasticity, mild intellectual disability, distal amyotrophy, and cerebellar atrophy transmitted as an autosomal recessive trait identified the following two missense mutations in the EXOSC3 gene: a novel p.V80F mutation and a known p.D132A change previously associated with mild variants of pontocerebellar hypoplasia type 1. This study confirms the involvement of RNA processing proteins in disorders with motor neuron and cerebellar degeneration overlapping with spinocerebellar ataxia 36 and rare forms of hereditary spastic paraplegia with cerebellar features. "
2.	Lactic Acid (Lactate)FDA LinkGeneric 01/01/2011 - "Furthermore, we show that pontocerebellar hypoplasia type 1 together with elevated cerebrospinal fluid lactate may be caused by RARS2 mutations."