Abstract
Adult Polyglucosan Body Disease (APBD) is a rare inherited leukodystrophy associated with axonal polyneuropathy, mainly reported in persons of Ashkenazi-Jewish descent. We describe three Italian siblings at disease onset, presenting in their fifties with a combination of pyramidal and ataxic signs, mild demyelinating neuropathy on neurophysiological investigation (1/3 cases) and transient symptoms (1/3). A leucoencephalopathy with infratentorial lesions without enhancement and medullary/spine atrophy was demonstrated on brain/spine MRI (3/3). Muscle biopsy was normal in 2/3; both muscle and nerve biopsy showed polyglucosan bodies in the sibling with polyneuropathy. This indicated a need for GBE1 sequencing, which revealed a novel missense mutation (c.1064G
| Original language | English |
|---|---|
| Pages (from-to) | 423-428 |
| Number of pages | 6 |
| Journal | Neuromuscular Disorders |
| Volume | 25 |
| Issue number | 5 |
| DOIs | |
| Publication status | Published - Sep 15 2014 |
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Keywords
- 1,4-Alpha-glucan branching enzyme
- Adult Polyglucosan Body Disease
- GBE1
- Leukodystrophy
ASJC Scopus subject areas
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health
- Genetics(clinical)
- Neurology
- Medicine(all)
Cite this
Adult Polyglucosan Body Disease : Clinical and histological heterogeneity of a large Italian family. / Colombo, I.; Pagliarani, S.; Testolin, S.; Salsano, E.; Napoli, L. M.; Bordoni, A.; Salani, S.; D'Adda, E.; Morandi, L.; Farina, L.; Magri, F.; Riva, M.; Prelle, A.; Sciacco, M.; Comi, G. P.; Moggio, M.
In: Neuromuscular Disorders, Vol. 25, No. 5, 15.09.2014, p. 423-428.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Adult Polyglucosan Body Disease
T2 - Clinical and histological heterogeneity of a large Italian family
AU - Colombo, I.
AU - Pagliarani, S.
AU - Testolin, S.
AU - Salsano, E.
AU - Napoli, L. M.
AU - Bordoni, A.
AU - Salani, S.
AU - D'Adda, E.
AU - Morandi, L.
AU - Farina, L.
AU - Magri, F.
AU - Riva, M.
AU - Prelle, A.
AU - Sciacco, M.
AU - Comi, G. P.
AU - Moggio, M.
PY - 2014/9/15
Y1 - 2014/9/15
N2 - Adult Polyglucosan Body Disease (APBD) is a rare inherited leukodystrophy associated with axonal polyneuropathy, mainly reported in persons of Ashkenazi-Jewish descent. We describe three Italian siblings at disease onset, presenting in their fifties with a combination of pyramidal and ataxic signs, mild demyelinating neuropathy on neurophysiological investigation (1/3 cases) and transient symptoms (1/3). A leucoencephalopathy with infratentorial lesions without enhancement and medullary/spine atrophy was demonstrated on brain/spine MRI (3/3). Muscle biopsy was normal in 2/3; both muscle and nerve biopsy showed polyglucosan bodies in the sibling with polyneuropathy. This indicated a need for GBE1 sequencing, which revealed a novel missense mutation (c.1064G
AB - Adult Polyglucosan Body Disease (APBD) is a rare inherited leukodystrophy associated with axonal polyneuropathy, mainly reported in persons of Ashkenazi-Jewish descent. We describe three Italian siblings at disease onset, presenting in their fifties with a combination of pyramidal and ataxic signs, mild demyelinating neuropathy on neurophysiological investigation (1/3 cases) and transient symptoms (1/3). A leucoencephalopathy with infratentorial lesions without enhancement and medullary/spine atrophy was demonstrated on brain/spine MRI (3/3). Muscle biopsy was normal in 2/3; both muscle and nerve biopsy showed polyglucosan bodies in the sibling with polyneuropathy. This indicated a need for GBE1 sequencing, which revealed a novel missense mutation (c.1064G
KW - 1,4-Alpha-glucan branching enzyme
KW - Adult Polyglucosan Body Disease
KW - GBE1
KW - Leukodystrophy
UR - http://www.scopus.com/inward/record.url?scp=84948582453&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84948582453&partnerID=8YFLogxK
U2 - 10.1016/j.nmd.2015.01.015
DO - 10.1016/j.nmd.2015.01.015
M3 - Article
C2 - 25728520
AN - SCOPUS:84948582453
VL - 25
SP - 423
EP - 428
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
SN - 0960-8966
IS - 5
ER -