Top

Published in:

01-09-2006 | LETTER TO THE EDITORS

GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features

Authors: Roberta Biancheri, Federico Zara, Pasquale Striano, Marina Pedemonte, Denise Cassandrini, Silvia Stringara, Fiore Manganelli, Lucio Santoro, Angelo Schenone, Emilia Bellone, Carlo Minetti

Published in: Journal of Neurology | Issue 9/2006

Excerpt

Sirs: Two Italian siblings, a 18-year-old man and a 12-year-old girl, were admitted to our hospital with peripheral neuropathy. The symptoms had started at the age of 5 and 6 years with abnormal gait and weakness in distal leg muscles. The two sibs showed a clinical picture characterized by wasting and severe weakness of the small hand muscles (MRC strength scale of III/V in the abductor brevis and opponens pollicis, abductor digiti minimi, interossei and lumbricali), gross atrophy and weakness of distal leg muscles, pes cavus, steppage gait with bilateral foot drop. Tendon reflexes in the upper limbs and knee reflexes were brisk (4+) and tendon tap to quadriceps showed thigh adductor muscle activation; ankle reflexes were absent. The plantar reflex was difficult to assess owing to the marked weakness of dorsiflexor muscles of the toe. Vibration sense was slightly reduced at ankles. Cranial nerves were intact. Neither patient showed hoarseness or vocal cord paralysis. …

Barhoumi C, Amouri R, Ben Hamida C, Ben Hamida M, Machghoul S, Gueddiche M, Hentati F. (2001). Linkage of a new locus for autosomal recessive axonal form of Charcot-Marie-Tooth disease to chromosome 8q21.3. Neuromuscul Disord 11:27–34PubMedCrossRef

Baxter RV, Ben Othmane K, Rochelle JM, Stajich JE, Hulette C, Dew-Knight S, Hentati F, Ben Hamida M, Bel S, Stenger JE, Gilbert JR, Pericak-Vance MA, Vance JM. (2002). Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat Genet 30:21–22PubMedCrossRef

Cuesta A, Pedrola L, Sevilla T, Garcia-Planells J, Chumillas MJ, Mayordomo F, LeGuern E, Marin I, Vilchez JJ, Palau F. (2002). The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot–Marie–Tooth type 4A disease. Nat Genet 30:22–25PubMedCrossRef

Di Maria E, Gulli R, Balestra P, Cassandrini D, Pigullo S, Doria-Lamba L, Bado M, Schenone A, Ajmar F, Mandich P, Bellone E. (2004). A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect. J Neurol Neurosurg Psychiatry 75:1495–1498PubMedCrossRef

Nelis E, Erdem S, Van Den Bergh PY, Belpaire-Dethiou MC, Ceuterick C, Van Gerwen V, Cuesta A, Pedrola L, Palau F, Gabreels-Festen AA, Verellen C, Tan E, Demirci M, Van Broeckhoven C, De Jonghe P, Topaloglu H, Timmerman V. (2002). Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. Neurology 59:1865–1872PubMed

Pedrola L, Espert A, Wu X, Claramunt R, Shy ME, Palau F. (2005). GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria. Hum Mol Genet 14:1087–1094PubMedCrossRef

Vucic S, Kennerson M, Zhu D, Miedema E, Kok C, Nicholson GA. (2003). CMT with pyramidal features Charcot-Marie-Tooth. Neurology 60:696–699

Zhu D, Kennerson ML, Walizada G, Zuchner S, Vance JM, Nicholson GA. (2005). Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations. Neurology 65:496–497PubMedCrossRef

Title: GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features
Authors: Roberta Biancheri
Federico Zara
Pasquale Striano
Marina Pedemonte
Denise Cassandrini
Silvia Stringara
Fiore Manganelli
Lucio Santoro
Angelo Schenone
Emilia Bellone
Carlo Minetti
Publication date: 01-09-2006
Publisher: Steinkopff-Verlag
Published in: Journal of Neurology / Issue 9/2006
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-006-0149-4

Keynote webinar | Spotlight on medication adherence

Springer Medicine

GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features

Excerpt

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Excerpt

Please log in to get access to this content

Other articles of this Issue 9/2006

Neuronavigation and surgery of intracerebral tumours

Levodopa availability improves with progression of Parkinson’s disease

Paroxysmal focal dystonia with sensory symptoms secondary to cortical oligoastrocytoma

Multiple sclerosis in Jordan: a clinical and epidemiological study

Pregnancy and delivery of a healthy baby in autoimmune Lambert-Eaton myasthenic syndrome

Utility of the Mattis dementia rating scale to assess the efficacy of rivastigmine in dementia associated with Parkinson’s disease