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Dejerine‐Sottas neuropathy in mother and son with same point mutation of PMP22 gene
Author(s) -
Ionasescu Victor V.,
Searby Charles C.,
Ionasescu Rebecca,
Chatkupt Sansnee,
Patel Nitin,
Koenigsberger Richard
Publication year - 1997
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/(sici)1097-4598(199701)20:1<97::aid-mus13>3.0.co;2-z
Subject(s) - pes cavus , weakness , electromyography , hypotonia , scoliosis , peripheral neuropathy , medicine , cystinuria , compound heterozygosity , physical medicine and rehabilitation , psychology , anatomy , pediatrics , genetics , surgery , endocrinology , mutation , biology , gene , diabetes mellitus , complication , biochemistry , cystine , enzyme , cysteine
We studied a 25‐year‐old black woman with healthy parents and her 2‐year, 11‐month‐old son. Her motor development was delayed and she started to walk with support when she was 6 years old. She never walked independently and had always used a wheelchair. Neurological evaluation showed severe weakness and atrophy of her feet, legs, and hands, bilateral pes cavus and hammertoes, corrected scoliosis, hypesthesia for proprioception and vibration sense in both feet and ankles, and areflexia. She had normal intelligence. Her son also had delayed motor milestones and was still unable to stand and walk independently at almost 3 years. Neurological evaluation revealed diffuse muscle hypotonia and weakness with generalized areflexia and normal intelligence. No muscle atrophies or feet deformities were noticed. Nerve conduction velocities showed significant slowing (less than 5 m/s) with prolonged distal latencies (above 30 ms). Compound motor action potential amplitudes were markedly reduced. Electromyography revealed polyphasic motor unit potentials. Molecular genetic studies indicated a Trembler type missense point mutation of exon 4 of the peripheral myelin protein 22 gene that led to the substitution of a spartic acid for glycine in both the mother and her son. Her parents showed normal DNA studies. © 1997 John Wiley & Sons, Inc.