Primary mitochondrial disorders
Updates to Article Attributes
There are numerous mitochondrial disorders. These includethat affect the neurological and muscular systems with in a variety of ways:
- Kearns-Sayre syndrome
- Leigh syndrome
- mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS)
- myoclonus epilepsy
and raggedwith ragged redfibersfibres (MERRF) - mitochondrial deletion syndromes , e.g. POLG-related disorders
Leigh syndrome- progressive cerebral poliodystrophy (also known as Alpers syndrome)
- trichopoliodystrophy (also known as Menkes disease)
The findings are variable, but as a general rule of thumb bilateral deep gray matter involvement and peripheral white matter involvement in young adults or children should suggest the diagnosis. This is especially the case if associated with an elevated lactate level on MRS.
InheritancePathology
As spermatozoa are deficient of mitochondria, these diseases are only inherited from the mother. The genes are located in mitochondrial DNA (mtDNA) of which there is a degree to heterogeneity within the one individual: not all mitochondria share the same genetic material. The percentage of affected mitochondria will dictate the degree to which the disease is clinically manifested 1.
Radiographic features
The findings are variable, but as a general rule of thumb bilateral deep gray matter involvement and peripheral white matter involvement in young adults or children should suggest the diagnosis. This is especially the case if associated with an elevated lactate level on MRS.
-<p>There are numerous <strong>mitochondrial disorders</strong>. These include:</p><ul>-<li><a href="/articles/melas">mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS)</a></li>-<li><a href="/articles/myoclonus-epilepsy-and-ragged-red-fibers-merrf">myoclonus epilepsy and ragged red fibers (MERRF)</a></li>- +<p>There are numerous <strong>mitochondrial disorders </strong>that affect the neurological and muscular systems with in a variety of ways: </p><ul>
- +<li><a href="/articles/melas">mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS)</a></li>
- +<li><a href="/articles/merrf">myoclonus epilepsy with ragged red fibres (MERRF)</a></li>
- +<li>
- +<a href="/articles/mitochondrial-deletion-syndromes">mitochondrial deletion syndromes</a>, e.g. <a href="/articles/polg-related-disorders">POLG-related disorders</a>
- +</li>
-</ul><p>The findings are variable, but as a general rule of thumb bilateral deep gray matter involvement and peripheral white matter involvement in young adults or children should suggest the diagnosis. This is especially the case if associated with an elevated lactate level on <a href="/articles/mrs">MRS</a>.</p><h4>Inheritance</h4><p>As spermatozoa are deficient of mitochondria, these diseases are only inherited from the mother. The genes are located in mitochondrial DNA (mtDNA) of which there is a degree to heterogeneity within the one individual: not all mitochondria share the same genetic material. The percentage of affected mitochondria will dictate the degree to which the disease is clinically manifested <sup>1</sup>.</p>- +</ul><h4>Pathology</h4><p>As spermatozoa are deficient of mitochondria, these diseases are only inherited from the mother. The genes are located in mitochondrial DNA (mtDNA) of which there is a degree to heterogeneity within the one individual: not all mitochondria share the same genetic material. The percentage of affected mitochondria will dictate the degree to which the disease is clinically manifested <sup>1</sup>.</p><h4>Radiographic features</h4><p>The findings are variable, but as a general rule of thumb bilateral deep gray matter involvement and peripheral white matter involvement in young adults or children should suggest the diagnosis. This is especially the case if associated with an elevated lactate level on <a href="/articles/mrs">MRS</a>.</p>
References changed:
- 3. Cheon JE, Kim IO, Hwang YS et-al. Leukodystrophy in children: a pictorial review of MR imaging features. Radiographics. 2002;22 (3): 461-76. <a href="http://dx.doi.org/10.1148/radiographics.22.3.g02ma01461">doi:10.1148/radiographics.22.3.g02ma01461</a> - <a href="http://www.ncbi.nlm.nih.gov/pubmed/12006681">Pubmed citation</a><span class="auto"></span>
- 4. DiMauro S, Hirano M. Mitochondrial DNA Deletion Syndromes. 2003 Dec 17 [Updated 2011 May 3]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1203/
Image 3 MRI (DWI) ( create )
