P3.21 A missense mutation in Mitofusin 2 causing early onset, progressive, axonal polyneuropathy (CMT2), optic atrophy and developmental delay in a child

2011 ◽  
Vol 21 (9-10) ◽  
pp. 688
Author(s):  
G.P. Hewawitharana ◽  
T. Antoniadi ◽  
C. Faulkner ◽  
M. Williams ◽  
J. Rankin ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Developmental Delay ◽  
Optic Atrophy ◽  
Early Onset ◽  
Mitofusin 2 ◽  
Axonal Polyneuropathy

Mitofusin 2 gene mutation (R94Q) causing severe early-onset axonal polyneuropathy (CMT2A)

2007 ◽  
Vol 14 (5) ◽  
pp. 575-577 ◽  
Author(s):  
C. Neusch ◽  
J. Senderek ◽  
T. Eggermann ◽  
E. Elolff ◽  
M. Bähr ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Early Onset ◽  
Mitofusin 2 ◽  
Axonal Polyneuropathy

Early-onset severe axonal neuropathy associated with optic atrophy and vocal cord paresis due to a mitofusin 2 mutation

2008 ◽  
Vol 119 (3) ◽  
pp. e20
Author(s):  
Eppie M. Yiu ◽  
Lloyd K. Shield ◽  
Leslie J. Roberts ◽  
Desirée du Sart ◽  
Belinda Chong ◽  
...  
Keyword(s):  
Vocal Cord ◽  
Optic Atrophy ◽  
Early Onset ◽  
Axonal Neuropathy ◽  
Mitofusin 2 ◽  
Vocal Cord Paresis

234. Early onset severe axonal neuropathy associated with optic atrophy and vocal cord paresis due to a mitofusin 2 mutation

2009 ◽  
Vol 16 (3) ◽  
pp. 479-480
Author(s):  
Eppie M. Yiu ◽  
Lloyd K. Shield ◽  
Leslie K. Roberts ◽  
Justin O’Day ◽  
Belinda Chong ◽  
...  
Keyword(s):  
Vocal Cord ◽  
Optic Atrophy ◽  
Early Onset ◽  
Axonal Neuropathy ◽  
Mitofusin 2 ◽  
Vocal Cord Paresis

scholarly journals The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel function

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Maria A. Gandini ◽  
Ivana A. Souza ◽  
Laurent Ferron ◽  
A. Micheil Innes ◽  
Gerald W. Zamponi
Keyword(s):  
Developmental Delay ◽  
Early Onset ◽  
Structural Damage ◽  
De Novo ◽  
Splice Variants ◽  
Cerebellar Atrophy ◽  
Familial Hemiplegic Migraine ◽  
Significant Loss ◽  
Loss Of Function ◽  
Hemiplegic Migraine

AbstractCACNA1A pathogenic variants have been linked to several neurological disorders including familial hemiplegic migraine and cerebellar conditions. More recently, de novo variants have been associated with severe early onset developmental encephalopathies. CACNA1A is highly expressed in the central nervous system and encodes the pore-forming CaVα1 subunit of P/Q-type (Cav2.1) calcium channels. We have previously identified a patient with a de novo missense mutation in CACNA1A (p.Y1384C), characterized by hemiplegic migraine, cerebellar atrophy and developmental delay. The mutation is located at the transmembrane S5 segment of the third domain. Functional analysis in two predominant splice variants of the neuronal Cav2.1 channel showed a significant loss of function in current density and changes in gating properties. Moreover, Y1384 variants exhibit differential splice variant-specific effects on recovery from inactivation. Finally, structural analysis revealed structural damage caused by the tyrosine substitution and changes in electrostatic potentials.

scholarly journals Cerebrovascular diseases in two patients with entire NSD1 deletion

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Toshiyuki Itai ◽  
Satoko Miyatake ◽  
Taku Hatano ◽  
Nobutaka Hattori ◽  
Atsuko Ohno ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Brain Imaging ◽  
Developmental Delay ◽  
Movement Disorders ◽  
Subdural Hematoma ◽  
Early Onset ◽  
Cerebrovascular Diseases ◽  
Brain Contusion ◽  
Abnormal Gait

AbstractWe describe two patients with NSD1 deletion, who presented with early-onset, or recurrent cerebrovascular diseases (CVDs). A 39-year-old female showed developmental delay and abnormal gait in infancy, and developed slowly-progressive intellectual disability and movement disorders. Brain imaging suggested recurrent parenchymal hemorrhages. A 6-year-old male had tremor as a neonate and brain imaging revealed subdural hematoma and brain contusion. This report suggests possible involvement of CVDs associated with NSD1 deletion.

A sporadic case of early-onset sarcoidosis resembling Blau syndrome due to the recurrent R334W missense mutation on the NOD2 gene

2007 ◽  
Vol 157 (6) ◽  
pp. 1257-1259 ◽  
Author(s):  
P. Coto-Segura ◽  
S. Mallo-Garcia ◽  
M. Costa-Romero ◽  
J.I. Arostegui ◽  
J. Yague ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Early Onset ◽  
Sporadic Case ◽  
Blau Syndrome ◽  
Early Onset Sarcoidosis

Early-onset Charcot-Marie-Tooth patients with mitofusin 2 mutations and brain involvement

2010 ◽  
Vol 81 (11) ◽  
pp. 1203-1206 ◽  
Author(s):  
K. W. Chung ◽  
B. C. Suh ◽  
S. Y. Cho ◽  
S. K. Choi ◽  
S. H. Kang ◽  
...  
Keyword(s):  
Early Onset ◽  
Mitofusin 2 ◽  
Charcot Marie Tooth ◽  
Brain Involvement

P15 – 1733 A novel SCN2A missense mutation in a Slovenian girl with early-onset epileptic encephalopathy

2013 ◽  
Vol 17 ◽  
pp. S58
Author(s):  
B Gnidovec Strazisar ◽  
K Writzl ◽  
D Paro Panjan ◽  
D Neubauer ◽  
K Nakamura ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Early Onset ◽  
Epileptic Encephalopathy
Sign in / Sign up

Export Citation Format

Share Document