Mutations of the SPG11 gene in patients with autosomal recessive spastic paraparesis and thin corpus callosum
Family No 1 Family No 2 Patient IV:3 Patient IV:5* Patient III:2 Patient III:5 Patient III:6* Findings Sex/age at examination (y) M/35 M/30 F/34 F/28 M/25 Age at onset (y) Cognitive decline 12 10 9 15 9 Gait disturbance 16 15 17 18 13 Cognitive function Verbal IQ 44 45 45 47 48 Performance IQ 52 49...
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| Veröffentlicht in: | Journal of neurology, neurosurgery and psychiatry neurosurgery and psychiatry, 2008-05, Vol.79 (5), p.607-609 |
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| creator | Lee, M-J Cheng, T-W Hua, M-S Pan, M-K Wang, J Stephenson, D A Yang, C-C |
| description | Family No 1 Family No 2 Patient IV:3 Patient IV:5* Patient III:2 Patient III:5 Patient III:6* Findings Sex/age at examination (y) M/35 M/30 F/34 F/28 M/25 Age at onset (y) Cognitive decline 12 10 9 15 9 Gait disturbance 16 15 17 18 13 Cognitive function Verbal IQ 44 45 45 47 48 Performance IQ 52 49 46 44 51 Full scale IQ 48 49 47 47 50 Frontal releasing sign + + + - + LL hyperreflexia+spasticity + + + + + UL hyperreflexia+spasticity - - + + + Extensor plantar response + + C + + Pseudobulbar dysarthria + + - - + Cerebellar ataxia + + - - + Distal amyotrophy - - + + - Urinary dysfunction - Frequency + incontinence Incontinence Frequency Frequency Brain MRI Age at scan (y) 35 30 34 29 25 Thin corpus callosum All All All All (nearly absent) All White matter change F, Pv F, Pv F, Pv F, Pv F, Pv Cortical atrophy F, T F, T F, T F F, T Cerebellar atrophy + + + - + Tibial nerve, right MNCV (m/s) 45 ND Absent 34 38 CMAP (mV) 8.4 ND Absent 6.0 7.1 Sural nerve, right SNCV (m/s) 47 ND 37 40 39 SAP ([mu]V) 5.0 ND 4.2 13.8 14.3 EMG Giant MUP ND NPW Spontaneous activities Giant MUP, NPW. To date, 30 ARHSP-TCC families worldwide have been identified with genetic linkage to SPG11. [...]far, the only SPG11 gene mutations to be described come from families around the Mediterranean Sea. 5 6 Thus our characterisation of two Taiwanese families with SPG11 gene mutations provides additional corroboration that the SPG11 is the responsible gene for ARHSP-TCC. |
| doi_str_mv | 10.1136/jnnp.2007.136390 |
| format | Article |
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To date, 30 ARHSP-TCC families worldwide have been identified with genetic linkage to SPG11. [...]far, the only SPG11 gene mutations to be described come from families around the Mediterranean Sea. 5 6 Thus our characterisation of two Taiwanese families with SPG11 gene mutations provides additional corroboration that the SPG11 is the responsible gene for ARHSP-TCC.</description><identifier>ISSN: 0022-3050</identifier><identifier>EISSN: 1468-330X</identifier><identifier>DOI: 10.1136/jnnp.2007.136390</identifier><identifier>PMID: 18408091</identifier><identifier>CODEN: JNNPAU</identifier><language>eng</language><publisher>England: BMJ Publishing Group Ltd</publisher><subject>Adolescent ; Adult ; Age ; Age of Onset ; Ataxia ; Atrophy ; Cerebral Cortex - pathology ; Chromosome Deletion ; Chromosomes, Human, Pair 15 - genetics ; Cognitive ability ; Consanguinity ; Corpus Callosum - pathology ; DNA Mutational Analysis ; Families & family life ; Female ; Genes ; Genes, Recessive - genetics ; Haplotypes ; Haplotypes - genetics ; Humans ; Magnetic Resonance Imaging ; Male ; Marriage ; Microsatellite Repeats - genetics ; Mutation ; Patients ; Pedigree ; Phenotype ; Proteins - genetics ; Spastic Paraplegia, Hereditary - genetics ; Spastic Paraplegia, Hereditary - parasitology</subject><ispartof>Journal of neurology, neurosurgery and psychiatry, 2008-05, Vol.79 (5), p.607-609</ispartof><rights>2008 BMJ Publishing Group</rights><rights>Copyright: 2008 2008 BMJ Publishing Group</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b472t-cb80c9ccbdfbd75a79753d38f9fb60024090225c8aaa52dd70de32dd1e611b763</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://jnnp.bmj.com/content/79/5/607.full.pdf$$EPDF$$P50$$Gbmj$$H</linktopdf><linktohtml>$$Uhttps://jnnp.bmj.com/content/79/5/607.full$$EHTML$$P50$$Gbmj$$H</linktohtml><link.rule.ids>114,115,314,778,782,3185,23558,27911,27912,77355,77386</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18408091$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Lee, M-J</creatorcontrib><creatorcontrib>Cheng, T-W</creatorcontrib><creatorcontrib>Hua, M-S</creatorcontrib><creatorcontrib>Pan, M-K</creatorcontrib><creatorcontrib>Wang, J</creatorcontrib><creatorcontrib>Stephenson, D A</creatorcontrib><creatorcontrib>Yang, C-C</creatorcontrib><title>Mutations of the SPG11 gene in patients with autosomal recessive spastic paraparesis and thin corpus callosum</title><title>Journal of neurology, neurosurgery and psychiatry</title><addtitle>J Neurol Neurosurg Psychiatry</addtitle><description>Family No 1 Family No 2 Patient IV:3 Patient IV:5* Patient III:2 Patient III:5 Patient III:6* Findings Sex/age at examination (y) M/35 M/30 F/34 F/28 M/25 Age at onset (y) Cognitive decline 12 10 9 15 9 Gait disturbance 16 15 17 18 13 Cognitive function Verbal IQ 44 45 45 47 48 Performance IQ 52 49 46 44 51 Full scale IQ 48 49 47 47 50 Frontal releasing sign + + + - + LL hyperreflexia+spasticity + + + + + UL hyperreflexia+spasticity - - + + + Extensor plantar response + + C + + Pseudobulbar dysarthria + + - - + Cerebellar ataxia + + - - + Distal amyotrophy - - + + - Urinary dysfunction - Frequency + incontinence Incontinence Frequency Frequency Brain MRI Age at scan (y) 35 30 34 29 25 Thin corpus callosum All All All All (nearly absent) All White matter change F, Pv F, Pv F, Pv F, Pv F, Pv Cortical atrophy F, T F, T F, T F F, T Cerebellar atrophy + + + - + Tibial nerve, right MNCV (m/s) 45 ND Absent 34 38 CMAP (mV) 8.4 ND Absent 6.0 7.1 Sural nerve, right SNCV (m/s) 47 ND 37 40 39 SAP ([mu]V) 5.0 ND 4.2 13.8 14.3 EMG Giant MUP ND NPW Spontaneous activities Giant MUP, NPW. To date, 30 ARHSP-TCC families worldwide have been identified with genetic linkage to SPG11. [...]far, the only SPG11 gene mutations to be described come from families around the Mediterranean Sea. 5 6 Thus our characterisation of two Taiwanese families with SPG11 gene mutations provides additional corroboration that the SPG11 is the responsible gene for ARHSP-TCC.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Age</subject><subject>Age of Onset</subject><subject>Ataxia</subject><subject>Atrophy</subject><subject>Cerebral Cortex - pathology</subject><subject>Chromosome Deletion</subject><subject>Chromosomes, Human, Pair 15 - genetics</subject><subject>Cognitive ability</subject><subject>Consanguinity</subject><subject>Corpus Callosum - pathology</subject><subject>DNA Mutational Analysis</subject><subject>Families & family life</subject><subject>Female</subject><subject>Genes</subject><subject>Genes, Recessive - genetics</subject><subject>Haplotypes</subject><subject>Haplotypes - genetics</subject><subject>Humans</subject><subject>Magnetic Resonance Imaging</subject><subject>Male</subject><subject>Marriage</subject><subject>Microsatellite Repeats - genetics</subject><subject>Mutation</subject><subject>Patients</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Proteins - genetics</subject><subject>Spastic Paraplegia, Hereditary - genetics</subject><subject>Spastic Paraplegia, Hereditary - parasitology</subject><issn>0022-3050</issn><issn>1468-330X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqFkd2L1DAUxYMo7rj67pMEBF-k403TNsmjDO66OH6hDr6FNE3djm1Tc1N1_3tTOij4soFwCfd3zuXmEPKYwZYxXr04juO0zQHENr24gjtkw4pKZpzD17tkA5DnGYcSzsgDxCMsR6r75IzJAiQotiHD2zma2PkRqW9pvHb004dLxug3NzrajXRKTTdGpL-6eE3NHD36wfQ0OOsQu5-O4mQwdjaRwaTrsENqxiZ5Jbn1YZqRWtP3HufhIbnXmh7do1M9J18uXn3evc727y-vdi_3WV2IPGa2lmCVtXXT1o0ojVCi5A2XrWrrKi1VgEqblVYaY8q8aQQ0jqfKXMVYLSp-Tp6tvlPwP2aHUQ8dWtf3ZnR-Ri2gUKKo4FYw_S2TDBbw6X_g0c9hTEtoJiTLCw6iSBSslA0eMbhWT6EbTLjRDPSSmF4SW1yFXhNLkicn47keXPNPcIooAdkKdBjd7799E77rSnBR6neHneYf1eFi_6bUh8Q_X_l6ON4-_g-o3a9I</recordid><startdate>200805</startdate><enddate>200805</enddate><creator>Lee, M-J</creator><creator>Cheng, T-W</creator><creator>Hua, M-S</creator><creator>Pan, M-K</creator><creator>Wang, J</creator><creator>Stephenson, D A</creator><creator>Yang, C-C</creator><general>BMJ Publishing Group Ltd</general><general>BMJ Publishing Group LTD</general><scope>BSCLL</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7RV</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>88G</scope><scope>88I</scope><scope>8AF</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>BTHHO</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>KB0</scope><scope>M0S</scope><scope>M1P</scope><scope>M2M</scope><scope>M2P</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PSYQQ</scope><scope>Q9U</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>200805</creationdate><title>Mutations of the SPG11 gene in patients with autosomal recessive spastic paraparesis and thin corpus callosum</title><author>Lee, M-J ; Cheng, T-W ; Hua, M-S ; Pan, M-K ; Wang, J ; Stephenson, D A ; Yang, C-C</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b472t-cb80c9ccbdfbd75a79753d38f9fb60024090225c8aaa52dd70de32dd1e611b763</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Age</topic><topic>Age of Onset</topic><topic>Ataxia</topic><topic>Atrophy</topic><topic>Cerebral Cortex - pathology</topic><topic>Chromosome Deletion</topic><topic>Chromosomes, Human, Pair 15 - genetics</topic><topic>Cognitive ability</topic><topic>Consanguinity</topic><topic>Corpus Callosum - pathology</topic><topic>DNA Mutational Analysis</topic><topic>Families & family life</topic><topic>Female</topic><topic>Genes</topic><topic>Genes, Recessive - genetics</topic><topic>Haplotypes</topic><topic>Haplotypes - genetics</topic><topic>Humans</topic><topic>Magnetic Resonance Imaging</topic><topic>Male</topic><topic>Marriage</topic><topic>Microsatellite Repeats - genetics</topic><topic>Mutation</topic><topic>Patients</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Proteins - genetics</topic><topic>Spastic Paraplegia, Hereditary - genetics</topic><topic>Spastic Paraplegia, Hereditary - parasitology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Lee, M-J</creatorcontrib><creatorcontrib>Cheng, T-W</creatorcontrib><creatorcontrib>Hua, M-S</creatorcontrib><creatorcontrib>Pan, M-K</creatorcontrib><creatorcontrib>Wang, J</creatorcontrib><creatorcontrib>Stephenson, D A</creatorcontrib><creatorcontrib>Yang, C-C</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Nursing & Allied Health Database</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Psychology Database (Alumni)</collection><collection>Science Database (Alumni Edition)</collection><collection>STEM Database</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Psychology Database</collection><collection>Science Database</collection><collection>Nursing & Allied Health Premium</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest One Psychology</collection><collection>ProQuest Central Basic</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of neurology, neurosurgery and psychiatry</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Lee, M-J</au><au>Cheng, T-W</au><au>Hua, M-S</au><au>Pan, M-K</au><au>Wang, J</au><au>Stephenson, D A</au><au>Yang, C-C</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutations of the SPG11 gene in patients with autosomal recessive spastic paraparesis and thin corpus callosum</atitle><jtitle>Journal of neurology, neurosurgery and psychiatry</jtitle><addtitle>J Neurol Neurosurg Psychiatry</addtitle><date>2008-05</date><risdate>2008</risdate><volume>79</volume><issue>5</issue><spage>607</spage><epage>609</epage><pages>607-609</pages><issn>0022-3050</issn><eissn>1468-330X</eissn><coden>JNNPAU</coden><abstract>Family No 1 Family No 2 Patient IV:3 Patient IV:5* Patient III:2 Patient III:5 Patient III:6* Findings Sex/age at examination (y) M/35 M/30 F/34 F/28 M/25 Age at onset (y) Cognitive decline 12 10 9 15 9 Gait disturbance 16 15 17 18 13 Cognitive function Verbal IQ 44 45 45 47 48 Performance IQ 52 49 46 44 51 Full scale IQ 48 49 47 47 50 Frontal releasing sign + + + - + LL hyperreflexia+spasticity + + + + + UL hyperreflexia+spasticity - - + + + Extensor plantar response + + C + + Pseudobulbar dysarthria + + - - + Cerebellar ataxia + + - - + Distal amyotrophy - - + + - Urinary dysfunction - Frequency + incontinence Incontinence Frequency Frequency Brain MRI Age at scan (y) 35 30 34 29 25 Thin corpus callosum All All All All (nearly absent) All White matter change F, Pv F, Pv F, Pv F, Pv F, Pv Cortical atrophy F, T F, T F, T F F, T Cerebellar atrophy + + + - + Tibial nerve, right MNCV (m/s) 45 ND Absent 34 38 CMAP (mV) 8.4 ND Absent 6.0 7.1 Sural nerve, right SNCV (m/s) 47 ND 37 40 39 SAP ([mu]V) 5.0 ND 4.2 13.8 14.3 EMG Giant MUP ND NPW Spontaneous activities Giant MUP, NPW. To date, 30 ARHSP-TCC families worldwide have been identified with genetic linkage to SPG11. [...]far, the only SPG11 gene mutations to be described come from families around the Mediterranean Sea. 5 6 Thus our characterisation of two Taiwanese families with SPG11 gene mutations provides additional corroboration that the SPG11 is the responsible gene for ARHSP-TCC.</abstract><cop>England</cop><pub>BMJ Publishing Group Ltd</pub><pmid>18408091</pmid><doi>10.1136/jnnp.2007.136390</doi><tpages>3</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Journal of neurology, neurosurgery and psychiatry, 2008-05, Vol.79 (5), p.607-609 |
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| subjects | Adolescent Adult Age Age of Onset Ataxia Atrophy Cerebral Cortex - pathology Chromosome Deletion Chromosomes, Human, Pair 15 - genetics Cognitive ability Consanguinity Corpus Callosum - pathology DNA Mutational Analysis Families & family life Female Genes Genes, Recessive - genetics Haplotypes Haplotypes - genetics Humans Magnetic Resonance Imaging Male Marriage Microsatellite Repeats - genetics Mutation Patients Pedigree Phenotype Proteins - genetics Spastic Paraplegia, Hereditary - genetics Spastic Paraplegia, Hereditary - parasitology |
| title | Mutations of the SPG11 gene in patients with autosomal recessive spastic paraparesis and thin corpus callosum |
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