WITHDRAWN: Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients.

The Publisher regrets that this article is an accidental duplication of an article that has already been published, 10.1016/j.pjnns.

Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients.

Introduction: Myotonic dystrophies (DMs) type 1 (DM1) and type 2 (DM2) are autosomal dominant, multisystem disorders, considered the most common dystrophies in adults. DM1 and DM2 are caused by dynamic mutations in the DMPK and CNBP genes, respectively.

Methods: Molecular analyses were performed by PCR and the modified RP-PCR in patients, in their at-risk relatives and prenatal cases.

Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.

Hereditary spastic paraplegias (HSPs) consist of a heterogeneous group of genetically determined neurodegenerative disorders. Progressive lower extremity weakness and spasticity are the prominent features of HSPs resulting from retrograde axonal degeneration of the corticospinal tracts. Three genetic types, SPG3 (ATL1), SPG4 (SPAST) and SPG31 (REEP1), appear predominantly and may account for up to 50% of autosomal dominant hereditary spastic paraplegias (AD-HSPs).

Peripheral nerve involvement in myotonic dystrophy type 2 - similar or different than in myotonic dystrophy type 1?

Introduction: Multisystem manifestations of myotonic dystrophies type 1 (DM1) and 2 (DM2) are well known. Peripheral nerve involvement has been reported in DM1 but not in genetically confirmed DM2. The aim of our study was to assess peripheral nerve involvement in DM2 using nerve conduction studies and to compare these results with findings in DM1.

Does quantitative EMG differ myotonic dystrophy type 2 and type 1?

Genetic testing is considered the only reliable diagnostic approach in myotonic dystrophy. However it has recently been reported that a considerable number of patients with genetically proven types of the disease have unusual phenotypic presentation. The aim of our study was to evaluate motor unit reorganization reflected by various electrophysiological abnormalities in myotonic dystrophies and to compare findings between type 1 (DM 1) and type 2 myotonic dystrophy (DM2).

Value of short exercise and short exercise with cooling tests in the diagnosis of myotonic dystrophies (DM1 and DM2).

Introduction: Standard electromyography (EMG) is useful in the diagnosis of myotonic dystrophy type 1 (DM1) and type 2 (DM2), but it does not differentiate between them. The aim of this study was to estimate the utility of the short exercise test (SET) and short exercise test with cooling (SETC) in differentiating between DM1 and DM2.

Methods: SET and SETC were performed in 32 patients with DM1 (mean age 35.

Rapid detection of large expansions in progressive myoclonus epilepsy type 1, myotonic dystrophy type 2 and spinocerebellar ataxia type 8.

Background And Purpose: Human genetic disorders associated with multiple unstable repeats resulting in long DNA expansions are difficult to identify by conventional polymerase chain reaction (PCR) in routine molecular testing, and therefore require time-consuming hybridisation. To improve and expedite the diagnostic methods for progressive myoclonus epilepsy (EPM1), myotonic dystrophy 2 (DM2) and spinocerebellar ataxia 8 (SCA8) caused by dynamic mutations, we adapted a repeat primed PCR (RP-PCR) assay which was previously developed for testing of other triplet repeat disorders.

Material And Methods: The new algorithm for molecular analysis was to run a standard PCR to yield alleles in an amplifiable range and then run a RP-PCR to detect larger expansions.

Screening for the hereditary spastic paraplaegias SPG4 and SPG3A with the multiplex ligation-dependent probe amplification technique in a large population of affected individuals.

Hereditary spastic paraplaegias are a group of clinically and genetically heterogeneous neurodegenerative disorders characterised by progressive spasticity and weakness in the lower limbs. The most common forms of hereditary spastic paraplaegia are SPG4 and SPG3A caused by sequence variants in the SPAST and ATL1 genes, as well as by deletions and duplications not detected by standard techniques. In this study, we used the multiplex ligation-dependent probe amplification (MLPA) analysis for screening 93 patients (52 familial and 41 isolated cases).

[Familial occurrence of FXTAS caused by premutation in the FMR1 gene].

The FMR1 gene premutation has recently been reported to be associated with a neurodegenerative syndrome, characterized by intention tremor, gait ataxia and cognition deficits in persons older than 50 years. We present a 74-year-old man with very severe intention tremor, slight postural tremor and gait ataxia. The molecular analysis revealed that he was a carrier of 91 CGG repeats in the FMR1 gene.

A molecular and cytogenetic investigation of FMR1 gene premutations in Polish patients with primary ovarian insufficiency.

Objective: The aim of this study was to determine the prevalence of premutations in the FMR1 gene that cause primary ovarian insufficiency (POI) in a group of affected women.

Study Design: Forty DNA samples were purified from peripheral blood collected from women with ovarian failure who were under 40 years of age. A routine cytogenetic test was performed to eliminate chromosomal aberrations as the cause of POI.

The occurrence of spinocerebellar ataxias caused by dynamic mutations in Polish patients.

Background And Purpose: Autosomal dominant spinocerebellar ataxias (SCAs) belong to a group of neurodegenerative disorders usually of adult age at onset. Predominant clinical features are progressive ataxia, dysarthria, as well as pyramidal signs and polyneuropathy. Molecular analysis allows particular types of SCA to be distinguished.

Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia.

Background And Purpose: The aim of this study was to determine the molecular basis of the disorder in patients suspected of spinocerebellar ataxias (SCAs) and search for premutation in the FMR1 gene causing FXTAS among patients in whom 9 SCA types were previously excluded.

Material And Methods: DNA obtained from 1385 patients suspected of SCA and 516 controls were used for molecular tests. DNA analysis was carried out by PCR reaction with specific primers.

Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene.

Background And Purpose: The aim of this study was to perform DNA analysis in patients with clinical diagnosis of Huntington's disease (HD) after molecular exclusion of HD and further molecular examinations for other neurodegenerative diseases such as Huntington's disease-like 2 (HDL-2; gene JPH3), dentatorubral pallidoluysian atrophy (DRPLA; gene ATN1) and spinocerebellar ataxia type 17 (SCA17; gene TBP).

Material And Methods: The material comprised 224 DNA samples isolated from peripheral blood from patients suspected of HD and 100 DNA samples from unaffected controls. The control group was used to determine the normal range of the number of CAG/CTG repeats in genes JPH3, ATN1 and TBP in the Polish population.