Duchenne muscular dystrophy (DMD) is a fatal recessive X-linked muscular disease affecting about 1 in 3500 live-born human males, characterized by severe muscle degeneration and responsible for muscular weakness. *Correspondence to first nictbor at address nbotieWe analysed the reading avities and processing of 21 children.with Duchenne muscular dystrophy (DMD), 11 matched children suffering from spinal muscular atrophy (SMA) and 42 children receiving normal education. The principal result observed was that the DIM) children exhibited a reading age which was siWcantly lower than the SMA children compared with their chronological age. These learning disabilities were not related to adeficit in non-verbal performance intelligence, but psycholinguistic evaluation Simildties and Arithmetic WISO-R subtests, in phonological abilities, oral word repetition, and in digit span score. The results for the DWD children were heterogeneous, and-ranged from normal to greater or lesser involvement. X n an attempt to c l a m the nature of this reading impairment in DMD children, the three groups (DMD, SMA, and normal control children) were tested by reading aloud a list of single words and non-words. The DMD children were significantly impaired in r e e g non-words, suggesting reading disability to dysphonetic dyslexia, the most freqbent subtype of developmental'dyslexia. These results are discussed in the light of psychometric data available for our DMD population and in the light of previous studies. The practical consequenees of diagnosis on rehabilitation are very important. The precise description of the cognitive deflcits seen in DMD js of value for futpre clinical and genetic studies.

Pontocerebellar hypoplasias (PCH) are characterized by lack of development and/or early neurodegeneration of cerebellum and brainstem. We report five patients referred for PCH, showing atypical clinical and magnetic resonance imaging (MRI) features suggestive of defects in the Reelin pathway. We screened for mutations in RELN or VLDLR and compared the phenotype of these patients with that of previously reported patients. All patients had profound cerebellar hypoplasia on MRI with peculiar cerebellar morphology, associated with flattened pons and neocortical abnormalities. Patient 1 had profound motor and intellectual disability with moderate lissencephaly suggestive of RELN mutations and was shown to harbor a splicing homozygous RELN mutation. The four other patients had a milder phenotype consistent with CARMQ1 (cerebellar ataxia and mental retardation with or without quadrupedal locomotion). These patients showed mild simplification or thickening of cortical gyration and had VLDLR mutations. Reelin signaling regulates neuronal migration in the developing mammalian brain. VLDLR is a key component of the Reelin pathway. Our patients had a very small and dysplatic cerebellar vermis that should suggest the involvement of these genes. Moreover, differences in clinical severity, involvement of the cerebellar hemispheres, together with the severity of the neocortical defect, enables RELN-mutated patients to be distinguished from VLDLR-mutated patients.

SCN with HAX1 mutations, is a rare sub type of congenital neutropenia, mostly observed in population from Sweden and Asia minor, associating frequently neurological retardation, when the mutations involved the B isoform of the protein.