Abstract
X-linked adrenoleukodystrophy (x-ALD) is a rare genetic disorder caused by a mutation in the ABCD1 gene, which encodes for a peroxisomal very long chain fatty acid transporter. Clinically, x-ALD can present a wide spectrum of different phenotypes: asymptomatic carriers, Addison only, cerebral x-ALD, and myelopathy with/without evidence of peripheral axonopathy (Adrenomyeloneuropathy). We report on two cases of adult x-ALD, with atypical phenotypes: (Case 1) A 37-years-old male with a 2-years-long history of spastic paraparesis, urinary urgency, and subclinical adrenocortical insufficiency. As an atypical finding, the MRI showed multiple congenital brain development defects. (Case 2) A 63-years-old male with a previous diagnosis of Addison disease, with a 6-years-long history of spastic paraparesis. Two years later, he complained of severe and disabling burning pain in his feet. A nerve conduction study was normal, but a skin biopsy revealed autonomic and somatic small fiber neuropathy. In both cases, genetic testing disclosed hemizygous mutation in ABCD1 associated with x-ALD: c. 1394-2A > G and p.(Thr254Met), respectively. While case 1 supports the key role of peroxisome functions in brain development, case 2 points to a possible selective and clinically relevant peripheral small fiber degeneration in x-ALD myelopathy.
| Original language | English |
|---|---|
| Article number | 70 |
| Journal | Frontiers in Neurology |
| Volume | 10 |
| Issue number | FEB |
| DOIs | |
| Publication status | Published - Jan 1 2019 |
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Keywords
- ABCD1
- Adrenoleukodystrophy
- Adrenomyelopathy
- Brain development defects
- MRI
- Skin biopsy
- Small fiber neuropathy
- Very long chain fatty acids
ASJC Scopus subject areas
- Neurology
- Clinical Neurology
Cite this
Broadening the spectrum of adulthood X-linked adrenoleukodystrophy : A report of two atypical cases. / Foschi, Matteo; Vacchiano, Veria; Avoni, Patrizia; Incensi, Alex; Battaglia, Stella; Donadio, Vincenzo; Panzeri, Elena; Bassi, Maria Teresa; Liguori, Rocco; Rizzo, Giovanni.
In: Frontiers in Neurology, Vol. 10, No. FEB, 70, 01.01.2019.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Broadening the spectrum of adulthood X-linked adrenoleukodystrophy
T2 - A report of two atypical cases
AU - Foschi, Matteo
AU - Vacchiano, Veria
AU - Avoni, Patrizia
AU - Incensi, Alex
AU - Battaglia, Stella
AU - Donadio, Vincenzo
AU - Panzeri, Elena
AU - Bassi, Maria Teresa
AU - Liguori, Rocco
AU - Rizzo, Giovanni
PY - 2019/1/1
Y1 - 2019/1/1
N2 - X-linked adrenoleukodystrophy (x-ALD) is a rare genetic disorder caused by a mutation in the ABCD1 gene, which encodes for a peroxisomal very long chain fatty acid transporter. Clinically, x-ALD can present a wide spectrum of different phenotypes: asymptomatic carriers, Addison only, cerebral x-ALD, and myelopathy with/without evidence of peripheral axonopathy (Adrenomyeloneuropathy). We report on two cases of adult x-ALD, with atypical phenotypes: (Case 1) A 37-years-old male with a 2-years-long history of spastic paraparesis, urinary urgency, and subclinical adrenocortical insufficiency. As an atypical finding, the MRI showed multiple congenital brain development defects. (Case 2) A 63-years-old male with a previous diagnosis of Addison disease, with a 6-years-long history of spastic paraparesis. Two years later, he complained of severe and disabling burning pain in his feet. A nerve conduction study was normal, but a skin biopsy revealed autonomic and somatic small fiber neuropathy. In both cases, genetic testing disclosed hemizygous mutation in ABCD1 associated with x-ALD: c. 1394-2A > G and p.(Thr254Met), respectively. While case 1 supports the key role of peroxisome functions in brain development, case 2 points to a possible selective and clinically relevant peripheral small fiber degeneration in x-ALD myelopathy.
AB - X-linked adrenoleukodystrophy (x-ALD) is a rare genetic disorder caused by a mutation in the ABCD1 gene, which encodes for a peroxisomal very long chain fatty acid transporter. Clinically, x-ALD can present a wide spectrum of different phenotypes: asymptomatic carriers, Addison only, cerebral x-ALD, and myelopathy with/without evidence of peripheral axonopathy (Adrenomyeloneuropathy). We report on two cases of adult x-ALD, with atypical phenotypes: (Case 1) A 37-years-old male with a 2-years-long history of spastic paraparesis, urinary urgency, and subclinical adrenocortical insufficiency. As an atypical finding, the MRI showed multiple congenital brain development defects. (Case 2) A 63-years-old male with a previous diagnosis of Addison disease, with a 6-years-long history of spastic paraparesis. Two years later, he complained of severe and disabling burning pain in his feet. A nerve conduction study was normal, but a skin biopsy revealed autonomic and somatic small fiber neuropathy. In both cases, genetic testing disclosed hemizygous mutation in ABCD1 associated with x-ALD: c. 1394-2A > G and p.(Thr254Met), respectively. While case 1 supports the key role of peroxisome functions in brain development, case 2 points to a possible selective and clinically relevant peripheral small fiber degeneration in x-ALD myelopathy.
KW - ABCD1
KW - Adrenoleukodystrophy
KW - Adrenomyelopathy
KW - Brain development defects
KW - MRI
KW - Skin biopsy
KW - Small fiber neuropathy
KW - Very long chain fatty acids
UR - http://www.scopus.com/inward/record.url?scp=85065925544&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85065925544&partnerID=8YFLogxK
U2 - 10.3389/fneur.2019.00070
DO - 10.3389/fneur.2019.00070
M3 - Article
AN - SCOPUS:85065925544
VL - 10
JO - Frontiers in Neurology
JF - Frontiers in Neurology
SN - 1664-2295
IS - FEB
M1 - 70
ER -