Clinical and electrophysiological features in a French family presenting with seipinopathy.
Identifieur interne : 000687 ( Main/Exploration ); précédent : 000686; suivant : 000688Clinical and electrophysiological features in a French family presenting with seipinopathy.
Auteurs : Yolaine Ollivier [France] ; Armelle Magot [France] ; Philippe Latour [France] ; Julie Perrier [France] ; Sandra Mercier [France] ; Thierry Maisonobe [France] ; Yann Péréon [France]Source :
- Neuromuscular disorders : NMD [ 1873-2364 ] ; 2015.
Descripteurs français
- Wicri :
- geographic : France.
English descriptors
- KwdEn :
- Adolescent, Family Health, Female, France, GTP-Binding Protein gamma Subunits (genetics), Humans, Lipodystrophy, Congenital Generalized (genetics), Lipodystrophy, Congenital Generalized (pathology), Lipodystrophy, Congenital Generalized (physiopathology), Male, Middle Aged, Muscle, Skeletal (physiopathology), Mutation (genetics), Neural Conduction (physiology), Reaction Time (physiology).
- MESH :
- chemical , genetics : GTP-Binding Protein gamma Subunits.
- geographic : France.
- genetics : Lipodystrophy, Congenital Generalized, Mutation.
- pathology : Lipodystrophy, Congenital Generalized.
- physiology : Neural Conduction, Reaction Time.
- physiopathology : Lipodystrophy, Congenital Generalized, Muscle, Skeletal.
- Adolescent, Family Health, Female, Humans, Male, Middle Aged.
Abstract
Seipinopathies are a group of inherited diseases affecting upper and lower motor neurons due to mutations in the Berardinelli-Seip congenital lipodystrophy 2 gene (BSCL2). We report a French family carrying the N88S mutation in the BSCL2 gene. A 12-yr-old girl complained of bilateral asymmetrical pes cavus with right hand motor deficit and amyotrophy, asymmetrical leg amyotrophy and pyramidal signs. Electrophysiological examination showed axonal asymmetrical motor neuropathy with distal predominance. Her father complained of right hand rest tremor with bilateral hand weakness. Physical examination revealed left leg, hand and forearm amyotrophy, akinesia and right arm rigidity, brisk reflexes in the lower limbs and bilateral Babinski sign. Nerve conduction studies showed distal asymmetrical axonal neuropathy with slight sensitive impairment with moderate decrease of nerve conduction velocity in some nerves. DNA sequencing revealed the presence of the known N88S mutation in the BSCL2 gene (dideoxy-nucleotide method on a 3730 DNA Analyzer, Life Technologies). BSCL2 gene mutations are associated with a wide spectrum of clinical and electrophysiological phenotypes and should be suspected in cases of distal hereditary motor neuropathy with pyramidal signs or early hand involvement. There may also be associated mild demyelination which may vary in severity within the same family. Clinical diagnosis was more difficult in this particular case due to the association with Parkinson symptoms.
DOI: 10.1016/j.nmd.2014.10.006
PubMed: 25454168
Affiliations:
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Atlantic Gene Therapy, Biotherapy Institute for Rare Diseases, Nantes, France. 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Atlantic Gene Therapy, Biotherapy Institute for Rare Diseases, Nantes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de Référence Maladies Neuromusculaires Nantes - Angers, CHU de Nantes, Nantes, France; Atlantic Gene Therapy, Biotherapy Institute for Rare Diseases, Nantes</wicri:regionArea><placeName><region type="region">Pays de la Loire</region><region type="old region">Pays de la Loire</region><settlement type="city">Nantes</settlement></placeName></affiliation></author></analytic><series><title level="j">Neuromuscular disorders : NMD</title><idno type="eISSN">1873-2364</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Family Health</term><term>Female</term><term>France</term><term>GTP-Binding Protein gamma Subunits (genetics)</term><term>Humans</term><term>Lipodystrophy, Congenital Generalized (genetics)</term><term>Lipodystrophy, Congenital Generalized (pathology)</term><term>Lipodystrophy, Congenital Generalized (physiopathology)</term><term>Male</term><term>Middle Aged</term><term>Muscle, Skeletal (physiopathology)</term><term>Mutation (genetics)</term><term>Neural Conduction (physiology)</term><term>Reaction Time (physiology)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>GTP-Binding Protein gamma Subunits</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>France</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lipodystrophy, Congenital Generalized</term><term>Mutation</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Lipodystrophy, Congenital Generalized</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Neural Conduction</term><term>Reaction Time</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Lipodystrophy, Congenital Generalized</term><term>Muscle, Skeletal</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Family Health</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>France</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Seipinopathies are a group of inherited diseases affecting upper and lower motor neurons due to mutations in the Berardinelli-Seip congenital lipodystrophy 2 gene (BSCL2). We report a French family carrying the N88S mutation in the BSCL2 gene. A 12-yr-old girl complained of bilateral asymmetrical pes cavus with right hand motor deficit and amyotrophy, asymmetrical leg amyotrophy and pyramidal signs. Electrophysiological examination showed axonal asymmetrical motor neuropathy with distal predominance. Her father complained of right hand rest tremor with bilateral hand weakness. Physical examination revealed left leg, hand and forearm amyotrophy, akinesia and right arm rigidity, brisk reflexes in the lower limbs and bilateral Babinski sign. Nerve conduction studies showed distal asymmetrical axonal neuropathy with slight sensitive impairment with moderate decrease of nerve conduction velocity in some nerves. DNA sequencing revealed the presence of the known N88S mutation in the BSCL2 gene (dideoxy-nucleotide method on a 3730 DNA Analyzer, Life Technologies). BSCL2 gene mutations are associated with a wide spectrum of clinical and electrophysiological phenotypes and should be suspected in cases of distal hereditary motor neuropathy with pyramidal signs or early hand involvement. There may also be associated mild demyelination which may vary in severity within the same family. Clinical diagnosis was more difficult in this particular case due to the association with Parkinson symptoms.</div></front></TEI><affiliations><list><country><li>France</li></country><region><li>Pays de la Loire</li><li>Île-de-France</li></region><settlement><li>Nantes</li><li>Paris</li></settlement></list><tree><country name="France"><region name="Pays de la Loire"><name sortKey="Ollivier, Yolaine" sort="Ollivier, Yolaine" uniqKey="Ollivier Y" first="Yolaine" last="Ollivier">Yolaine Ollivier</name></region><name sortKey="Latour, Philippe" sort="Latour, Philippe" uniqKey="Latour P" first="Philippe" last="Latour">Philippe Latour</name><name sortKey="Magot, Armelle" sort="Magot, Armelle" uniqKey="Magot A" first="Armelle" last="Magot">Armelle Magot</name><name sortKey="Maisonobe, Thierry" sort="Maisonobe, Thierry" uniqKey="Maisonobe T" first="Thierry" last="Maisonobe">Thierry Maisonobe</name><name sortKey="Mercier, Sandra" sort="Mercier, Sandra" uniqKey="Mercier S" first="Sandra" last="Mercier">Sandra Mercier</name><name sortKey="Pereon, Yann" sort="Pereon, Yann" uniqKey="Pereon Y" first="Yann" last="Péréon">Yann Péréon</name><name sortKey="Perrier, Julie" sort="Perrier, Julie" uniqKey="Perrier J" first="Julie" last="Perrier">Julie Perrier</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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