Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation
Transthyretin (TTR) amyloidosis, the most frequent form of hereditary amyloidosis, is caused by dominant mutations in the TTR gene. More than 100 mutations have been identified. Clinical manifestations of TTR amyloidosis are usually induced by extracellular amyloid deposition in several organs. The...
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| Format: | Article |
| Language: | English |
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Karger Publishers
2011-02-01
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| Series: | Case Reports in Neurology |
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| Online Access: | http://www.karger.com/Article/FullText/324925 |
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| author | Giulietta Riboldi Roberto Del Bo Michela Ranieri Francesca Magri Monica Sciacco Maurizio Moggio Nereo Bresolin Stefania Corti Giacomo P. Comi |
| author_facet | Giulietta Riboldi Roberto Del Bo Michela Ranieri Francesca Magri Monica Sciacco Maurizio Moggio Nereo Bresolin Stefania Corti Giacomo P. Comi |
| author_sort | Giulietta Riboldi |
| collection | DOAJ |
| description | Transthyretin (TTR) amyloidosis, the most frequent form of hereditary amyloidosis, is caused by dominant mutations in the TTR gene. More than 100 mutations have been identified. Clinical manifestations of TTR amyloidosis are usually induced by extracellular amyloid deposition in several organs. The major neurological manifestation is motor-sensory neuropathy associated with dysautonomic impairment. Here, we describe a63-year-old man who came to our institution due to a suspected motor neuron disease. During a 4-year follow-up period, he underwent extensive clinical examination, electromyographic studies, sural nerve biopsy and TTR gene analysis by direct sequencing. Despite the predominant motor involvement, the detailed clinical examination also showed some mild sensory and dysautonomic signs. In addition, his clinical and family history included multiorgan disorders, such as carpal tunnel syndrome, as well as conditions with cardiac, renal, eye, and hepatic involvement. The sural nerve biopsy disclosed amyloid deposition, and the sequence analysis of the TTR gene detected a heterozygous Tyr78Phe substitution. The TTR gene variant found in our patient had only been described once so far, in a French man of Italian origin presenting with late-onset peripheral neuropathy and bilateral carpal tunnel syndrome. The predominant motor involvement presented by our patient is an uncommon occurrence and demonstrates the clinical heterogeneity of TTR amyloidosis. |
| first_indexed | 2024-04-14T05:37:56Z |
| format | Article |
| id | doaj.art-e74ce14b91c3499ba68ca3d8f59ec716 |
| institution | Directory Open Access Journal |
| issn | 1662-680X |
| language | English |
| last_indexed | 2024-04-14T05:37:56Z |
| publishDate | 2011-02-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Case Reports in Neurology |
| spelling | doaj.art-e74ce14b91c3499ba68ca3d8f59ec7162022-12-22T02:09:34ZengKarger PublishersCase Reports in Neurology1662-680X2011-02-0131626810.1159/000324925324925Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial PresentationGiulietta RiboldiRoberto Del BoMichela RanieriFrancesca MagriMonica SciaccoMaurizio MoggioNereo BresolinStefania CortiGiacomo P. ComiTransthyretin (TTR) amyloidosis, the most frequent form of hereditary amyloidosis, is caused by dominant mutations in the TTR gene. More than 100 mutations have been identified. Clinical manifestations of TTR amyloidosis are usually induced by extracellular amyloid deposition in several organs. The major neurological manifestation is motor-sensory neuropathy associated with dysautonomic impairment. Here, we describe a63-year-old man who came to our institution due to a suspected motor neuron disease. During a 4-year follow-up period, he underwent extensive clinical examination, electromyographic studies, sural nerve biopsy and TTR gene analysis by direct sequencing. Despite the predominant motor involvement, the detailed clinical examination also showed some mild sensory and dysautonomic signs. In addition, his clinical and family history included multiorgan disorders, such as carpal tunnel syndrome, as well as conditions with cardiac, renal, eye, and hepatic involvement. The sural nerve biopsy disclosed amyloid deposition, and the sequence analysis of the TTR gene detected a heterozygous Tyr78Phe substitution. The TTR gene variant found in our patient had only been described once so far, in a French man of Italian origin presenting with late-onset peripheral neuropathy and bilateral carpal tunnel syndrome. The predominant motor involvement presented by our patient is an uncommon occurrence and demonstrates the clinical heterogeneity of TTR amyloidosis.http://www.karger.com/Article/FullText/324925Amyloid neuropathyMotor-sensory neuropathyTransthyretin gene |
| spellingShingle | Giulietta Riboldi Roberto Del Bo Michela Ranieri Francesca Magri Monica Sciacco Maurizio Moggio Nereo Bresolin Stefania Corti Giacomo P. Comi Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation Case Reports in Neurology Amyloid neuropathy Motor-sensory neuropathy Transthyretin gene |
| title | Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation |
| title_full | Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation |
| title_fullStr | Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation |
| title_full_unstemmed | Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation |
| title_short | Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation |
| title_sort | tyr78phe transthyretin mutation with predominant motor neuropathy as the initial presentation |
| topic | Amyloid neuropathy Motor-sensory neuropathy Transthyretin gene |
| url | http://www.karger.com/Article/FullText/324925 |
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