No abstract available.
Gait Apraxia ; Gait

Aged ; Apraxias ; physiopathology ; Gait Apraxia ; physiopathology ; Humans ; Parkinson Disease ; diagnosis ; physiopathology

We present a case of beta-propeller protein-associated neurodegeneration, a form of neurodegeneration with brain iron accumulation. The patient harbored a novel mutation in the WDR45 gene. A detailed video and description of her clinical condition are provided. Her movement disorder phenomenology was characterized primarily by limb stereotypies and gait dyspraxia. The patient's disability was advanced by the time iron-chelating therapy with deferiprone was initiated, and no clinical response in terms of cognitive function, behavior, speech, or movements were observed after one year of treatment.
Brain ; Chelation Therapy ; Cognition ; Extremities ; Gait Apraxia ; Humans ; Iron ; Movement Disorders

Corticobasal syndrome (CBS) is characterized by asymmetric dystonia, and myoclonus accompanied by higher cortical features including apraxia, alien limb phenomena, cortical sensory loss. Here, we report treatment course of 3 CBS patients. Asymmetric dystonia was seen in the first and second cases, a cortical sensory loss was seen in the third case and left lower limb apraxia was common in all cases. In the first and second cases, we performed an alcohol block on the obturator nerve and injected botulinum toxin into the lower leg to reduce dystonia. In the third case, patient was treated with a robotic assisted gait training, whole body therapeutic pool and gait training with laser pointer visual cueing. After appropriate treatment for patients, all 3 cases showed improvement in gait.
Apraxias ; Botulinum Toxins ; Cues ; Dystonia ; Emigrants and Immigrants ; Extremities ; Gait Apraxia ; Gait* ; Humans ; Leg ; Lower Extremity ; Myoclonus ; Nerve Block ; Neurological Rehabilitation ; Obturator Nerve ; Rehabilitation*

PURPOSE: Rett syndrome(RTT) is an X-linked dominant neurodevelopmental disorder affecting 1 per 10,000-15,000 female births worldwide. It was initially described by Andreas Rett in 1966. RTT involves developmental regression characterized stereotypic hand movements, tremors, gait apraxia, seizures, deceleration of head growth after the age of 6-18 months. The disease-causing gene was identified as MECP2 on chromosome Xq28. We carried out mutational analysis of MECP2 genes in RTT patients. METHODS: Whole blood(5 cc) of 34 sporadic RTT patients was collected in EDTA-anticoagulated tubes. Genomic DNA was extracted from peripheral blood using the E.Z.N.A. blood DNA kit. Four exons of the MECP2 gene were amplified by PCR in 34 Korean with RTT. We carried out PCR divided the exon three into two parts and the exon four into five parts. Primer sequences designed by Amir et al. in 1999 were almost used(AF030876). Sequencing primers used were the same as PCR. DNA sequencing reactions were performed using an ABI 377 DNA sequencer and ABI PRISM dye terminator cycle sequencing reaction kit(Perkin-elmer). The results were compared with the normal DNA sequence(X99686). To confirm the change of sequence on novel mutations, RFLP analysis was performed. RESULTS: The MECP2 mutations were detected in 23(67.6%) of the 34 patients. The mutations consisted of 12 different types including nine missense and three nonsense mutations. Of these, three (L100V, G161E and T311M) mutations were newly identified. Most of the mutations discovered are located within MBD(39.1%) and TRD(39.1%). In this study, three(T158M, R270X, R306C) mutations were identified high frequency. CONCLUSION: MECP2 gene was also an important cause of Korean RTT patients. MECP2 gene study is an important tool for diagnosis of Korean RTT patients.
Codon, Nonsense ; Deceleration ; Diagnosis ; DNA ; Exons ; Female ; Gait Apraxia ; Hand ; Head ; Humans ; Parturition ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Rett Syndrome* ; Seizures ; Sequence Analysis, DNA ; Tremor