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233. Recessive opticocerebellobulbospinal leukodystrophy
Abstracts / Journal of Clinical Neuroscience 16 (2009) 462–481
231. Analysis of UMN Abnormalities in Parry-Romberg Syndrome Jennica M. Winhammar a, Steve Vucic b, Matthew Kiernan c, Dominic B. Rowe d a
Royal North Shore Hospital b Prince of Wales Medical Research Institute c Prince of Wales Hospital d Australian School of Advanced Medicine
Parry-Romberg (PR) syndrome is a clinically heterogenous syndrome characterised by hemifacial atrophy, and variable associated intracerebral abnormalities producing contralateral neurological manifestations, including hemiparesis, hemianopia and focal seizures. The syndrome usually begins in adolescence, and is often associated with linear scleroderma, with a typical facial appearance of ‘coup de sabre’. The aetiology of PR syndrome is unknown, but there are a few reported associations with scleroderma. PR syndrome allows a unique interrogation of upper motor neuron (UMN) abnormalities, because of the unilateral involvement of the cerebral hemisphere and corticospinal tract. We describe a subject with PR syndrome who had assessment of the UMN with diffusion tensor imaging (DTI) and transcranial magnetic stimulation (TMS) to identify abnormalities and in the motor cortex and in the corticospinal tract. While previous authors have used DTI and TMS in isolation to identify motor cortex and corticospinal tract abnormalities in PR syndrome, this is the first description of both of these methods in the assessment UMN pathology in a patient with PR syndrome, compared with normal subjects and subjects with UMN abnormalities as a part of Amyotrophic Lateral Sclerosis (ALS). doi:10.1016/j.jocn.2008.07.058
232. The management of knee flexion instability with a stance control knee ankle foot orthosis – a case study Darren M. Pereira
479
233. Recessive opticocerebellobulbospinal leukodystrophy Elsdon Storey a, Michael Fahey b a Van Cleef Roet Centre for Nervous Diseases, Monash University (Alfred Hospital Campus) b Genetic Health Services Victoria
Objective: To describe a novel adolescent-onset recessive leukodystrophy with opticocerebellobulbospinal involvement. Methods: Two affected of four (total) offspring of healthy nonconsanguineous Anglo-Celtic parents, a female and male aged 46 and 54, were examined clinically, electrophysiologically (NCS, VEP’s, SSEP’s), and by MRI scanning. Results: On historical grounds, onset was probably in adolescence. Both had a syndrome comprising lower limb distal amyotrophy and weakness superimposed on pyramidal weakness; knee jerks were abnormally brisk but ankle jerks depressed/absent. Motor NCS’s and EMG were consistent with a mild axonal motor neuropathy or a neuronopathy. Both had impaired large-fibre sensory dysfunction in lower > upper limbs (vibration thresholds and 2-point discrimination) with normal SNAP’s but absent SSEP’s. Both had impairment of red-green colour vision, and symmetrical marked prolongation of pattern VEP’s, the more severely affected with optic atrophy. One had slight and the other mild appendicular ataxia. MRI scans in the less affected showed an abnormal increase in T2 signal in the middle cerebellar peduncles, while the more severely affected had the additional findings of increased signal in the white matter tracts of the medulla and spinal cord atrophy. Supratentorial structures (and intellect) were normal. GFAP gene sequencing excluded adult-onset Alexander’s disease. Conclusion: These two siblings present a unique, slowly-progressive, presumably recessive, opticocerebellobulbospinal leukodystrophy. Ascertainment of other similarly-affected individuals may enable gene identification using homozygosity by descent analysis.
doi:10.1016/j.jocn.2008.07.060
St. Vincent’s Hospital Melbourne Knee Ankle Foot Orthoses (KAFO) are often prescribed for clients who present with knee flexion instability. At St Vincent’s Hospital Melbourne, this pathomechanical gait deviation is commonly seen in neuromuscular disorders such as poliomyelitis, multiple sclerosis and the late onset muscular dystrophies. Stance phase control orthotic knee joints have been a recent development for the Prosthetic and Orthotic profession. These joints provide knee stability during stance phase and allow knee flexion during swing phase. Prior to their introduction, clients with significant knee flexion instability had to walk with a KAFO that did not allow knee flexion during the gait cycle. This paper will present Mr B, a 71 year old gentleman, who contracted polio as a child in Australia. The acute episode caused mild residual left lower limb weakness but he had been able to ambulate safely throughout his adult life, without the assistance of orthoses or gait aids. In 2005, Mr B presented for his annual review in the Polio Services Victoria clinic and his gait had deteriorated significantly. He complained of progressive muscle weakness in the left limb, pain in the right hip and regular falls. This case study will outline the successful prescription of a KAFO that incorporated a stance control knee joint (E-Knee, Becker Orthopedic, USA). It will also outline how the use of orthotic diagnostic tools aided prescription and demonstrate improvements in temporal and spatial gait characteristics with a Stance Control KAFO. doi:10.1016/j.jocn.2008.07.059
234. Early onset severe axonal neuropathy associated with optic atrophy and vocal cord paresis due to a mitofusin 2 mutation Eppie M. Yiu a, Lloyd K. Shield a, Leslie K. Roberts b, Justin O’Day c, Belinda Chong d, Desirée du Sart d, Monique M. Ryan a a
Royal Children’s Hospital Melbourne St. Vincent’s Hospital Melbourne c University of Melbourne, Dept of Ophthalmology d Murdoch Children’s Research Institute b
Objective: Mutations in the mitofusin 2 (MFN2) gene have been described in Charcot-Marie-Tooth disease Type 2A (CMT 2A), hereditary motor and sensory neuropathy Type VI (HMSN VI), and the Ouvrier form of axonal neuropathy of early childhood onset. The R364W mutation has been reported in five kindreds with an early-onset autosomal dominant severe axonal neuropathy, and associated with variable optic atrophy and vocal cord paresis. We describe the clinical phenotype of a pedigree with the R364W mutation. Methods: We describe the clinical and electrophysiological features of a severe early-onset axonal neuropathy in a 53 year old woman and her 24 year old daughter with the R364W mutation. Results: Both patients developed gait abnormalities at age three. Features include severe length dependent weakness and wasting, areflexia, optic atrophy and vocal cord paresis. Progression over time to severe disability has occurred in both patients.
231. Analysis of UMN Abnormalities in Parry-Romberg Syndrome Jennica M. Winhammar a, Steve Vucic b, Matthew Kiernan c, Dominic B. Rowe d a
Royal North Shore Hospital b Prince of Wales Medical Research Institute c Prince of Wales Hospital d Australian School of Advanced Medicine
Parry-Romberg (PR) syndrome is a clinically heterogenous syndrome characterised by hemifacial atrophy, and variable associated intracerebral abnormalities producing contralateral neurological manifestations, including hemiparesis, hemianopia and focal seizures. The syndrome usually begins in adolescence, and is often associated with linear scleroderma, with a typical facial appearance of ‘coup de sabre’. The aetiology of PR syndrome is unknown, but there are a few reported associations with scleroderma. PR syndrome allows a unique interrogation of upper motor neuron (UMN) abnormalities, because of the unilateral involvement of the cerebral hemisphere and corticospinal tract. We describe a subject with PR syndrome who had assessment of the UMN with diffusion tensor imaging (DTI) and transcranial magnetic stimulation (TMS) to identify abnormalities and in the motor cortex and in the corticospinal tract. While previous authors have used DTI and TMS in isolation to identify motor cortex and corticospinal tract abnormalities in PR syndrome, this is the first description of both of these methods in the assessment UMN pathology in a patient with PR syndrome, compared with normal subjects and subjects with UMN abnormalities as a part of Amyotrophic Lateral Sclerosis (ALS). doi:10.1016/j.jocn.2008.07.058
232. The management of knee flexion instability with a stance control knee ankle foot orthosis – a case study Darren M. Pereira
479
233. Recessive opticocerebellobulbospinal leukodystrophy Elsdon Storey a, Michael Fahey b a Van Cleef Roet Centre for Nervous Diseases, Monash University (Alfred Hospital Campus) b Genetic Health Services Victoria
Objective: To describe a novel adolescent-onset recessive leukodystrophy with opticocerebellobulbospinal involvement. Methods: Two affected of four (total) offspring of healthy nonconsanguineous Anglo-Celtic parents, a female and male aged 46 and 54, were examined clinically, electrophysiologically (NCS, VEP’s, SSEP’s), and by MRI scanning. Results: On historical grounds, onset was probably in adolescence. Both had a syndrome comprising lower limb distal amyotrophy and weakness superimposed on pyramidal weakness; knee jerks were abnormally brisk but ankle jerks depressed/absent. Motor NCS’s and EMG were consistent with a mild axonal motor neuropathy or a neuronopathy. Both had impaired large-fibre sensory dysfunction in lower > upper limbs (vibration thresholds and 2-point discrimination) with normal SNAP’s but absent SSEP’s. Both had impairment of red-green colour vision, and symmetrical marked prolongation of pattern VEP’s, the more severely affected with optic atrophy. One had slight and the other mild appendicular ataxia. MRI scans in the less affected showed an abnormal increase in T2 signal in the middle cerebellar peduncles, while the more severely affected had the additional findings of increased signal in the white matter tracts of the medulla and spinal cord atrophy. Supratentorial structures (and intellect) were normal. GFAP gene sequencing excluded adult-onset Alexander’s disease. Conclusion: These two siblings present a unique, slowly-progressive, presumably recessive, opticocerebellobulbospinal leukodystrophy. Ascertainment of other similarly-affected individuals may enable gene identification using homozygosity by descent analysis.
doi:10.1016/j.jocn.2008.07.060
St. Vincent’s Hospital Melbourne Knee Ankle Foot Orthoses (KAFO) are often prescribed for clients who present with knee flexion instability. At St Vincent’s Hospital Melbourne, this pathomechanical gait deviation is commonly seen in neuromuscular disorders such as poliomyelitis, multiple sclerosis and the late onset muscular dystrophies. Stance phase control orthotic knee joints have been a recent development for the Prosthetic and Orthotic profession. These joints provide knee stability during stance phase and allow knee flexion during swing phase. Prior to their introduction, clients with significant knee flexion instability had to walk with a KAFO that did not allow knee flexion during the gait cycle. This paper will present Mr B, a 71 year old gentleman, who contracted polio as a child in Australia. The acute episode caused mild residual left lower limb weakness but he had been able to ambulate safely throughout his adult life, without the assistance of orthoses or gait aids. In 2005, Mr B presented for his annual review in the Polio Services Victoria clinic and his gait had deteriorated significantly. He complained of progressive muscle weakness in the left limb, pain in the right hip and regular falls. This case study will outline the successful prescription of a KAFO that incorporated a stance control knee joint (E-Knee, Becker Orthopedic, USA). It will also outline how the use of orthotic diagnostic tools aided prescription and demonstrate improvements in temporal and spatial gait characteristics with a Stance Control KAFO. doi:10.1016/j.jocn.2008.07.059
234. Early onset severe axonal neuropathy associated with optic atrophy and vocal cord paresis due to a mitofusin 2 mutation Eppie M. Yiu a, Lloyd K. Shield a, Leslie K. Roberts b, Justin O’Day c, Belinda Chong d, Desirée du Sart d, Monique M. Ryan a a
Royal Children’s Hospital Melbourne St. Vincent’s Hospital Melbourne c University of Melbourne, Dept of Ophthalmology d Murdoch Children’s Research Institute b
Objective: Mutations in the mitofusin 2 (MFN2) gene have been described in Charcot-Marie-Tooth disease Type 2A (CMT 2A), hereditary motor and sensory neuropathy Type VI (HMSN VI), and the Ouvrier form of axonal neuropathy of early childhood onset. The R364W mutation has been reported in five kindreds with an early-onset autosomal dominant severe axonal neuropathy, and associated with variable optic atrophy and vocal cord paresis. We describe the clinical phenotype of a pedigree with the R364W mutation. Methods: We describe the clinical and electrophysiological features of a severe early-onset axonal neuropathy in a 53 year old woman and her 24 year old daughter with the R364W mutation. Results: Both patients developed gait abnormalities at age three. Features include severe length dependent weakness and wasting, areflexia, optic atrophy and vocal cord paresis. Progression over time to severe disability has occurred in both patients.