Abstract
Respiratory chain disorders (RCDs) have been included in the differential diagnosis of adult-onset leukodystrophies. Here, we first report a 32-year-old female with an atypical, adult-onset, non-syndromic RCD due to a mitochondrial DNA deletion and manifesting as complicated ataxia. A 'leukodystrophic' pattern was found on brain MRI, but it was neither isolated nor predominant because of the presence of overt basal ganglia and infratentorial lesions, which led us to the proper diagnosis. Subsequently, we evaluated our series of patients with RCDs in order to verify whether a 'leukodystrophic' pattern with little or no involvement of deep grey structures and brainstem may be found in adult-onset RCDs, as reported in children. Among 52 patients with adult-onset RCDs, no case with a 'leukodystrophic' pattern was found, apart from three cases with a classical phenotype of mitochondrial neurogastrointestinal encephalopathy. In addition, no case of RCDs was found among six cases of adult-onset leukodystrophy of unknown origin and at least one feature suggestive of mitochondrial disease. The review of the literature was in agreement with these findings. Thus, we provide evidence that, unlike in children, RCDs should not be included in the differential diagnosis of adult-onset leukodystrophies, except when there are additional MRI findings or clinical features which unequivocally point towards a mitochondrial disorder.
| Original language | English |
|---|---|
| Pages (from-to) | 1617-1623 |
| Number of pages | 7 |
| Journal | Journal of Neurology |
| Volume | 260 |
| Issue number | 6 |
| DOIs | |
| Publication status | Published - Jun 2013 |
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Keywords
- Kearns-Sayre syndrome (KSS)
- Leukodystrophy
- Leukoencephalopathy
- Mitochondrial
- Mitochondrial neurogastrointestinal encephalopathy (MNGIE)
- White matter
ASJC Scopus subject areas
- Clinical Neurology
- Neurology
Cite this
Adult-onset leukodystrophies from respiratory chain disorders : Do they exist? / Salsano, Ettore; Farina, Laura; Lamperti, Costanza; Piscosquito, Giuseppe; Salerno, Franco; Morandi, Lucia; Carrara, Franco; Lamantea, Eleonora; Zeviani, Massimo; Uziel, Graziella; Savoiardo, Mario; Pareyson, Davide.
In: Journal of Neurology, Vol. 260, No. 6, 06.2013, p. 1617-1623.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Adult-onset leukodystrophies from respiratory chain disorders
T2 - Do they exist?
AU - Salsano, Ettore
AU - Farina, Laura
AU - Lamperti, Costanza
AU - Piscosquito, Giuseppe
AU - Salerno, Franco
AU - Morandi, Lucia
AU - Carrara, Franco
AU - Lamantea, Eleonora
AU - Zeviani, Massimo
AU - Uziel, Graziella
AU - Savoiardo, Mario
AU - Pareyson, Davide
PY - 2013/6
Y1 - 2013/6
N2 - Respiratory chain disorders (RCDs) have been included in the differential diagnosis of adult-onset leukodystrophies. Here, we first report a 32-year-old female with an atypical, adult-onset, non-syndromic RCD due to a mitochondrial DNA deletion and manifesting as complicated ataxia. A 'leukodystrophic' pattern was found on brain MRI, but it was neither isolated nor predominant because of the presence of overt basal ganglia and infratentorial lesions, which led us to the proper diagnosis. Subsequently, we evaluated our series of patients with RCDs in order to verify whether a 'leukodystrophic' pattern with little or no involvement of deep grey structures and brainstem may be found in adult-onset RCDs, as reported in children. Among 52 patients with adult-onset RCDs, no case with a 'leukodystrophic' pattern was found, apart from three cases with a classical phenotype of mitochondrial neurogastrointestinal encephalopathy. In addition, no case of RCDs was found among six cases of adult-onset leukodystrophy of unknown origin and at least one feature suggestive of mitochondrial disease. The review of the literature was in agreement with these findings. Thus, we provide evidence that, unlike in children, RCDs should not be included in the differential diagnosis of adult-onset leukodystrophies, except when there are additional MRI findings or clinical features which unequivocally point towards a mitochondrial disorder.
AB - Respiratory chain disorders (RCDs) have been included in the differential diagnosis of adult-onset leukodystrophies. Here, we first report a 32-year-old female with an atypical, adult-onset, non-syndromic RCD due to a mitochondrial DNA deletion and manifesting as complicated ataxia. A 'leukodystrophic' pattern was found on brain MRI, but it was neither isolated nor predominant because of the presence of overt basal ganglia and infratentorial lesions, which led us to the proper diagnosis. Subsequently, we evaluated our series of patients with RCDs in order to verify whether a 'leukodystrophic' pattern with little or no involvement of deep grey structures and brainstem may be found in adult-onset RCDs, as reported in children. Among 52 patients with adult-onset RCDs, no case with a 'leukodystrophic' pattern was found, apart from three cases with a classical phenotype of mitochondrial neurogastrointestinal encephalopathy. In addition, no case of RCDs was found among six cases of adult-onset leukodystrophy of unknown origin and at least one feature suggestive of mitochondrial disease. The review of the literature was in agreement with these findings. Thus, we provide evidence that, unlike in children, RCDs should not be included in the differential diagnosis of adult-onset leukodystrophies, except when there are additional MRI findings or clinical features which unequivocally point towards a mitochondrial disorder.
KW - Kearns-Sayre syndrome (KSS)
KW - Leukodystrophy
KW - Leukoencephalopathy
KW - Mitochondrial
KW - Mitochondrial neurogastrointestinal encephalopathy (MNGIE)
KW - White matter
UR - http://www.scopus.com/inward/record.url?scp=84878884481&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84878884481&partnerID=8YFLogxK
U2 - 10.1007/s00415-013-6844-z
DO - 10.1007/s00415-013-6844-z
M3 - Article
C2 - 23358625
AN - SCOPUS:84878884481
VL - 260
SP - 1617
EP - 1623
JO - Journal of Neurology
JF - Journal of Neurology
SN - 0340-5354
IS - 6
ER -