Genetics of Charcot-Marie-Tooth Disease

Neuroimaging in Dementia

“…MRI studies in MCI have shown that hippocampal volumes and cortical volumes in the parietal and lateral temporal regions are able to predict the likelihood of progression [6]. Longitudinal studies have demonstrated greater atrophy rates in ERC [7], and in the temporal lobe as a whole [8], in MCI patients than in controls.…”

Neuroimaging in Dementia

“…MRI studies in MCI have shown that hippocampal volumes and cortical volumes in the parietal and lateral temporal regions are able to predict the likelihood of progression [6]. Longitudinal studies have demonstrated greater atrophy rates in ERC [7], and in the temporal lobe as a whole [8], in MCI patients than in controls.…”

Identifying and managing Charcot-Marie-Tooth disease

“…Type 1-the genetic mutation affects the myelin sheath that surrounds the axons Type 2-the mutation primarily causes deterioration of the axons. The most common type, CMT1A, accounts for nearly 70% of all cases and arises because of the duplication of a gene encoding a protein that makes up the myelin sheath (Pleasure, 2003). CMT1A usually presents with a typical phenotype.…”

“…These two main types of the disease can be classifi ed further, according to specifi c gene mutations and their pattern of inheritance, into at least 30 different types. However, the symptoms are usually similar in each type (Pleasure, 2003).…”

“…Rarer forms of the disease include type 3 and type 4 subtypes (Pleasure, 2003). CMT type 3, or Dejerine-Sottas disease, is a severe demyelinating neuropathy that begins in infancy.…”

Clinical and molecular analysis of X‐linked Charcot‐Marie‐Tooth disease type 1 in Spanish population

“…CMT can be genetically divided in autosomal dominant, autosomal recessive and X-linked types (1)(2)(3). CMT type X1 disease (CMTX1) is an Xdominant peripheral neuropathy caused by mutations in the GJB1 gene coding for the gap junction protein connexin 32 and located within the Xq13 region (4)(5)(6). Males are usually more severely affected, and the onset of symptoms is earlier than in females.…”

Neuroimaging in Dementia

“…MRI studies in MCI have shown that hippocampal volumes and cortical volumes in the parietal and lateral temporal regions are able to predict the likelihood of progression [6]. Longitudinal studies have demonstrated greater atrophy rates in ERC [7], and in the temporal lobe as a whole [8], in MCI patients than in controls.…”

Identifying and managing Charcot-Marie-Tooth disease

“…Type 1-the genetic mutation affects the myelin sheath that surrounds the axons Type 2-the mutation primarily causes deterioration of the axons. The most common type, CMT1A, accounts for nearly 70% of all cases and arises because of the duplication of a gene encoding a protein that makes up the myelin sheath (Pleasure, 2003). CMT1A usually presents with a typical phenotype.…”

“…These two main types of the disease can be classifi ed further, according to specifi c gene mutations and their pattern of inheritance, into at least 30 different types. However, the symptoms are usually similar in each type (Pleasure, 2003).…”

“…Rarer forms of the disease include type 3 and type 4 subtypes (Pleasure, 2003). CMT type 3, or Dejerine-Sottas disease, is a severe demyelinating neuropathy that begins in infancy.…”

Clinical and molecular analysis of X‐linked Charcot‐Marie‐Tooth disease type 1 in Spanish population

“…CMT can be genetically divided in autosomal dominant, autosomal recessive and X-linked types (1)(2)(3). CMT type X1 disease (CMTX1) is an Xdominant peripheral neuropathy caused by mutations in the GJB1 gene coding for the gap junction protein connexin 32 and located within the Xq13 region (4)(5)(6). Males are usually more severely affected, and the onset of symptoms is earlier than in females.…”

Neuroimaging in Dementia

“…MRI studies in MCI have shown that hippocampal volumes and cortical volumes in the parietal and lateral temporal regions are able to predict the likelihood of progression [6]. Longitudinal studies have demonstrated greater atrophy rates in ERC [7], and in the temporal lobe as a whole [8], in MCI patients than in controls.…”

Identifying and managing Charcot-Marie-Tooth disease

“…Type 1-the genetic mutation affects the myelin sheath that surrounds the axons Type 2-the mutation primarily causes deterioration of the axons. The most common type, CMT1A, accounts for nearly 70% of all cases and arises because of the duplication of a gene encoding a protein that makes up the myelin sheath (Pleasure, 2003). CMT1A usually presents with a typical phenotype.…”

“…These two main types of the disease can be classifi ed further, according to specifi c gene mutations and their pattern of inheritance, into at least 30 different types. However, the symptoms are usually similar in each type (Pleasure, 2003).…”

“…Rarer forms of the disease include type 3 and type 4 subtypes (Pleasure, 2003). CMT type 3, or Dejerine-Sottas disease, is a severe demyelinating neuropathy that begins in infancy.…”

Clinical and molecular analysis of X‐linked Charcot‐Marie‐Tooth disease type 1 in Spanish population

“…CMT can be genetically divided in autosomal dominant, autosomal recessive and X-linked types (1)(2)(3). CMT type X1 disease (CMTX1) is an Xdominant peripheral neuropathy caused by mutations in the GJB1 gene coding for the gap junction protein connexin 32 and located within the Xq13 region (4)(5)(6). Males are usually more severely affected, and the onset of symptoms is earlier than in females.…”